#version 2.4
## 
## Oncotator v1.8.0.0 | Flat File Reference hg19 | GENCODE v19 EFFECT | UniProt_AAxform 2014_12 | ClinVar 12.03.20 | ESP 6500SI-V2 | ORegAnno UCSC Track | dbSNP build 142 | CCLE_By_GP 09292010 | COSMIC v62_291112 | 1000gp3 20130502 | UniProt_AA 2014_12 | dbNSFP v2.4 | ESP 6500SI-V2 | COSMIC_FusionGenes v62_291112 | gencode_xref_refseq metadata_v19 | CCLE_By_Gene 09292010 | ACHILLES_Lineage_Results 110303 | CGC full_2012-03-15 | UniProt 2014_12 | HumanDNARepairGenes 20110905 | HGNC Sept172014 | COSMIC_Tissue 291112 | Familial_Cancer_Genes 20110905 | TUMORScape 20100104 | Ensembl ICGC MUCOPA | TCGAScape 110405 | MutSig Published Results 20110905 
Hugo_Symbol	Entrez_Gene_Id	Center	NCBI_Build	Chromosome	Start_position	End_position	Strand	Variant_Classification	Variant_Type	Reference_Allele	Tumor_Seq_Allele1	Tumor_Seq_Allele2	dbSNP_RS	dbSNP_Val_Status	Tumor_Sample_Barcode	Matched_Norm_Sample_Barcode	Match_Norm_Seq_Allele1	Match_Norm_Seq_Allele2	Tumor_Validation_Allele1	Tumor_Validation_Allele2	Match_Norm_Validation_Allele1	Match_Norm_Validation_Allele2	Verification_Status	Validation_Status	Mutation_Status	Sequencing_Phase	Sequence_Source	Validation_Method	Score	BAM_file	Sequencer	Tumor_Sample_UUID	Matched_Norm_Sample_UUID	Genome_Change	Annotation_Transcript	Transcript_Strand	Transcript_Exon	Transcript_Position	cDNA_Change	Codon_Change	Protein_Change	Other_Transcripts	Refseq_mRNA_Id	Refseq_prot_Id	SwissProt_acc_Id	SwissProt_entry_Id	Description	UniProt_AApos	UniProt_Region	UniProt_Site	UniProt_Natural_Variations	UniProt_Experimental_Info	GO_Biological_Process	GO_Cellular_Component	GO_Molecular_Function	COSMIC_overlapping_mutations	COSMIC_fusion_genes	COSMIC_tissue_types_affected	COSMIC_total_alterations_in_gene	Tumorscape_Amplification_Peaks	Tumorscape_Deletion_Peaks	TCGAscape_Amplification_Peaks	TCGAscape_Deletion_Peaks	DrugBank	ref_context	gc_content	CCLE_ONCOMAP_overlapping_mutations	CCLE_ONCOMAP_total_mutations_in_gene	CGC_Mutation_Type	CGC_Translocation_Partner	CGC_Tumor_Types_Somatic	CGC_Tumor_Types_Germline	CGC_Other_Diseases	DNARepairGenes_Role	FamilialCancerDatabase_Syndromes	MUTSIG_Published_Results	OREGANNO_ID	OREGANNO_Values	i_1000gp3_AA	i_1000gp3_AC	i_1000gp3_AF	i_1000gp3_AFR_AF	i_1000gp3_AMR_AF	i_1000gp3_AN	i_1000gp3_CIEND	i_1000gp3_CIPOS	i_1000gp3_CS	i_1000gp3_DP	i_1000gp3_EAS_AF	i_1000gp3_END	i_1000gp3_EUR_AF	i_1000gp3_IMPRECISE	i_1000gp3_MC	i_1000gp3_MEINFO	i_1000gp3_MEND	i_1000gp3_MLEN	i_1000gp3_MSTART	i_1000gp3_NS	i_1000gp3_SAS_AF	i_1000gp3_SVLEN	i_1000gp3_SVTYPE	i_1000gp3_TSD	i_ACHILLES_Lineage_Results_Top_Genes	i_Annotation_Transcript	i_CCLE_ONCOMAP_overlapping_mutations	i_CCLE_ONCOMAP_total_mutations_in_gene	i_CGC_Cancer Germline Mut	i_CGC_Cancer Molecular Genetics	i_CGC_Cancer Somatic Mut	i_CGC_Cancer Syndrome	i_CGC_Chr	i_CGC_Chr Band	i_CGC_GeneID	i_CGC_Mutation_Type	i_CGC_Name	i_CGC_Other Germline Mut	i_CGC_Other_Diseases	i_CGC_Tissue Type	i_CGC_Translocation_Partner	i_CGC_Tumor_Types_Germline	i_CGC_Tumor_Types_Somatic	i_COSMIC_fusion_genes	i_COSMIC_n_overlapping_mutations	i_COSMIC_overlapping_mutation_descriptions	i_COSMIC_overlapping_mutations	i_COSMIC_overlapping_primary_sites	i_COSMIC_tissue_types_affected	i_COSMIC_total_alterations_in_gene	i_ClinVar_ASSEMBLY	i_ClinVar_HGMD_ID	i_ClinVar_SYM	i_ClinVar_TYPE	i_ClinVar_rs	i_Codon_Change	i_DNARepairGenes_Role	i_Description	i_DrugBank	i_ESP_AA	i_ESP_AAC	i_ESP_AA_AC	i_ESP_AA_AGE	i_ESP_AA_GTC	i_ESP_AvgAAsampleReadDepth	i_ESP_AvgEAsampleReadDepth	i_ESP_AvgSampleReadDepth	i_ESP_CA	i_ESP_CDP	i_ESP_CG	i_ESP_CP	i_ESP_Chromosome	i_ESP_DBSNP	i_ESP_DP	i_ESP_EA_AC	i_ESP_EA_AGE	i_ESP_EA_GTC	i_ESP_EXOME_CHIP	i_ESP_FG	i_ESP_GL	i_ESP_GM	i_ESP_GS	i_ESP_GTC	i_ESP_GTS	i_ESP_GWAS_PUBMED	i_ESP_MAF	i_ESP_PH	i_ESP_PP	i_ESP_Position	i_ESP_TAC	i_ESP_TotalAAsamplesCovered	i_ESP_TotalEAsamplesCovered	i_ESP_TotalSamplesCovered	i_Ensembl_so_accession	i_Ensembl_so_term	i_Entrez_Gene_Id	i_FamilialCancerDatabase_Syndromes	i_Familial_Cancer_Genes_Reference	i_Familial_Cancer_Genes_Synonym	i_GO_Biological_Process	i_GO_Cellular_Component	i_GO_Molecular_Function	i_Genome_Change	i_HGNC_Accession Numbers	i_HGNC_CCDS IDs	i_HGNC_Chromosome	i_HGNC_Date Modified	i_HGNC_Date Name Changed	i_HGNC_Date Symbol Changed	i_HGNC_Ensembl Gene ID	i_HGNC_Ensembl ID(supplied by Ensembl)	i_HGNC_Enzyme IDs	i_HGNC_Gene family description	i_HGNC_HGNC ID	i_HGNC_Locus Group	i_HGNC_Locus Type	i_HGNC_Name Synonyms	i_HGNC_OMIM ID(supplied by NCBI)	i_HGNC_Previous Names	i_HGNC_Previous Symbols	i_HGNC_Primary IDs	i_HGNC_Pubmed IDs	i_HGNC_Record Type	i_HGNC_RefSeq(supplied by NCBI)	i_HGNC_Secondary IDs	i_HGNC_Status	i_HGNC_Synonyms	i_HGNC_UCSC ID(supplied by UCSC)	i_HGNC_UniProt ID(supplied by UniProt)	i_HGNC_VEGA IDs	i_HGVS_coding_DNA_change	i_HGVS_genomic_change	i_HGVS_protein_change	i_MUTSIG_Published_Results	i_OREGANNO_ID	i_OREGANNO_Values	i_ORegAnno_bin	i_Other_Transcripts	i_Protein_Change	i_Refseq_mRNA_Id	i_Refseq_prot_Id	i_SwissProt_acc_Id	i_SwissProt_entry_Id	i_TCGAscape_Amplification_Peaks	i_TCGAscape_Deletion_Peaks	i_Transcript_Exon	i_Transcript_Position	i_Transcript_Strand	i_Tumorscape_Amplification_Peaks	i_Tumorscape_Deletion_Peaks	i_UniProt_AApos	i_UniProt_Experimental_Info	i_UniProt_Natural_Variations	i_UniProt_Region	i_UniProt_Site	i_UniProt_alt_uniprot_accessions	i_Variant_Classification	i_Variant_Type	i_annotation_transcript	i_build	i_cDNA_Change	i_ccds_id	i_dbNSFP_1000Gp1_AC	i_dbNSFP_1000Gp1_AF	i_dbNSFP_1000Gp1_AFR_AC	i_dbNSFP_1000Gp1_AFR_AF	i_dbNSFP_1000Gp1_AMR_AC	i_dbNSFP_1000Gp1_AMR_AF	i_dbNSFP_1000Gp1_ASN_AC	i_dbNSFP_1000Gp1_ASN_AF	i_dbNSFP_1000Gp1_EUR_AC	i_dbNSFP_1000Gp1_EUR_AF	i_dbNSFP_Ancestral_allele	i_dbNSFP_CADD_phred	i_dbNSFP_CADD_raw	i_dbNSFP_CADD_raw_rankscore	i_dbNSFP_ESP6500_AA_AF	i_dbNSFP_ESP6500_EA_AF	i_dbNSFP_Ensembl_geneid	i_dbNSFP_Ensembl_transcriptid	i_dbNSFP_FATHMM_pred	i_dbNSFP_FATHMM_rankscore	i_dbNSFP_FATHMM_score	i_dbNSFP_GERP++_NR	i_dbNSFP_GERP++_RS	i_dbNSFP_GERP++_RS_rankscore	i_dbNSFP_Interpro_domain	i_dbNSFP_LRT_Omega	i_dbNSFP_LRT_converted_rankscore	i_dbNSFP_LRT_pred	i_dbNSFP_LRT_score	i_dbNSFP_LR_pred	i_dbNSFP_LR_rankscore	i_dbNSFP_LR_score	i_dbNSFP_MutationAssessor_pred	i_dbNSFP_MutationAssessor_rankscore	i_dbNSFP_MutationAssessor_score	i_dbNSFP_MutationTaster_converted_rankscore	i_dbNSFP_MutationTaster_pred	i_dbNSFP_MutationTaster_score	i_dbNSFP_Polyphen2_HDIV_pred	i_dbNSFP_Polyphen2_HDIV_rankscore	i_dbNSFP_Polyphen2_HDIV_score	i_dbNSFP_Polyphen2_HVAR_pred	i_dbNSFP_Polyphen2_HVAR_rankscore	i_dbNSFP_Polyphen2_HVAR_score	i_dbNSFP_RadialSVM_pred	i_dbNSFP_RadialSVM_rankscore	i_dbNSFP_RadialSVM_score	i_dbNSFP_Reliability_index	i_dbNSFP_SIFT_converted_rankscore	i_dbNSFP_SIFT_pred	i_dbNSFP_SIFT_score	i_dbNSFP_SLR_test_statistic	i_dbNSFP_SiPhy_29way_logOdds	i_dbNSFP_SiPhy_29way_logOdds_rankscore	i_dbNSFP_SiPhy_29way_pi	i_dbNSFP_UniSNP_ids	i_dbNSFP_Uniprot_aapos	i_dbNSFP_Uniprot_acc	i_dbNSFP_Uniprot_id	i_dbNSFP_aaalt	i_dbNSFP_aapos	i_dbNSFP_aapos_FATHMM	i_dbNSFP_aapos_SIFT	i_dbNSFP_aaref	i_dbNSFP_cds_strand	i_dbNSFP_codonpos	i_dbNSFP_fold-degenerate	i_dbNSFP_genename	i_dbNSFP_hg18_pos(1-coor)	i_dbNSFP_phastCons100way_vertebrate	i_dbNSFP_phastCons100way_vertebrate_rankscore	i_dbNSFP_phastCons46way_placental	i_dbNSFP_phastCons46way_placental_rankscore	i_dbNSFP_phastCons46way_primate	i_dbNSFP_phastCons46way_primate_rankscore	i_dbNSFP_phyloP100way_vertebrate	i_dbNSFP_phyloP100way_vertebrate_rankscore	i_dbNSFP_phyloP46way_placental	i_dbNSFP_phyloP46way_placental_rankscore	i_dbNSFP_phyloP46way_primate	i_dbNSFP_phyloP46way_primate_rankscore	i_dbNSFP_refcodon	i_entrez_gene_id	i_gc_content_full	i_gencode_transcript_name	i_gencode_transcript_status	i_gencode_transcript_tags	i_gencode_transcript_type	i_gene_type	i_havana_transcript	i_refseq_mrna_id	i_secondary_variant_classification	i_t_alt_count_full	i_t_ref_count_full	isArtifactMode	oxoGCut	pox	pox_cutoff	qox	t_alt_count	t_ref_count	validation_alt_allele	validation_method	validation_status	validation_tumor_sample
CR1	1378	broad.mit.edu	37	1	207787753	207787753	+	Nonsense_Mutation	SNP	C	C	T	rs55749440		TCGA-HT-7608-01A-11D-2086-08	TCGA-HT-7608-10A-01D-2086-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	89a5c656-38cc-4852-ac49-3a7ca6d164a0	1284b1b6-b9f7-4ee6-9ae2-f7da19f9deb6	g.chr1:207787753C>T	ENST00000367049.4	+	40	6580	c.6580C>T	c.(6580-6582)Cga>Tga	p.R2194*	CR1_ENST00000367051.1_Nonsense_Mutation_p.R1744*|CR1_ENST00000367053.1_Nonsense_Mutation_p.R1744*|CR1_ENST00000400960.2_Nonsense_Mutation_p.R1744*|CR1_ENST00000367052.1_Nonsense_Mutation_p.R1744*	NM_000651.4	NP_000642.3	P17927	CR1_HUMAN	complement component (3b/4b) receptor 1 (Knops blood group)	1744					complement activation, classical pathway (GO:0006958)|complement receptor mediated signaling pathway (GO:0002430)|innate immune response (GO:0045087)|negative regulation of complement activation, alternative pathway (GO:0045957)|negative regulation of complement activation, classical pathway (GO:0045959)|negative regulation of serine-type endopeptidase activity (GO:1900004)|positive regulation of serine-type endopeptidase activity (GO:1900005)|regulation of complement activation (GO:0030449)	cell surface (GO:0009986)|extracellular vesicular exosome (GO:0070062)|integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)	complement component C3b binding (GO:0001851)|complement component C3b receptor activity (GO:0004877)|complement component C4b binding (GO:0001855)|complement component C4b receptor activity (GO:0001861)	p.R1749*(9)|p.R2194*(9)|p.R1744*(1)		NS(1)|breast(1)|central_nervous_system(1)|endometrium(9)|kidney(11)|large_intestine(13)|lung(33)|ovary(3)|prostate(6)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	82						CTTTAGGTTCCGATTAAAAGG	0.423																																						ENST00000367049.4																			19	Substitution - Nonsense(19)	p.R1749*(9)|p.R2194*(9)|p.R1744*(1)	lung(6)|endometrium(6)|prostate(3)|kidney(2)|central_nervous_system(2)	NS(1)|breast(1)|central_nervous_system(1)|endometrium(9)|kidney(11)|large_intestine(13)|lung(33)|ovary(3)|prostate(6)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	82						c.(6580-6582)Cga>Tga		complement component (3b/4b) receptor 1 (Knops blood group)							103.0	94.0	97.0					1																	207787753		1868	4107	5975	SO:0001587	stop_gained	1378				complement activation, classical pathway|innate immune response	integral to plasma membrane	complement receptor activity	g.chr1:207787753C>T	Y00816	CCDS44308.1, CCDS44309.1	1q32	2014-07-19	2006-01-12		ENSG00000203710	ENSG00000203710		"""CD molecules"", ""Blood group antigens"", ""Complement system"""	2334	protein-coding gene	gene with protein product		120620	"""complement component (3b/4b) receptor 1, including Knops blood group system"""			1708809	Standard	XM_005273064		Approved	CD35, KN	uc001hfx.3	P17927	OTTHUMG00000036311	ENST00000367049.4:c.6580C>T	1.37:g.207787753C>T	ENSP00000356016:p.Arg2194*					CR1_ENST00000367051.1_Nonsense_Mutation_p.R1744*|CR1_ENST00000367052.1_Nonsense_Mutation_p.R1744*|CR1_ENST00000400960.2_Nonsense_Mutation_p.R1744*|CR1_ENST00000367053.1_Nonsense_Mutation_p.R1744*	p.R2194*	NM_000651.4	NP_000642.3	P17927	CR1_HUMAN			40	6580	+			1744					Q16744|Q16745|Q5SR43|Q5SR45|Q9UQV2	Nonsense_Mutation	SNP	ENST00000367049.4	37	c.6580C>T	CCDS44308.1	.	.	.	.	.	.	.	.	.	.	C	44	11.182593	0.99528	.	.	ENSG00000203710	ENST00000367052;ENST00000367051;ENST00000367053;ENST00000400960;ENST00000367049	.	.	.	4.29	2.39	0.29439	.	.	.	.	.	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.02654	T	1	.	7.5152	0.27596	0.0:0.7891:0.0:0.2109	rs55749440	.	.	.	X	1744;1744;1744;1744;2194	.	ENSP00000356016:R2194X	R	+	1	2	CR1	205854376	0.129000	0.22400	0.370000	0.25965	0.352000	0.29268	0.213000	0.17521	0.518000	0.28383	0.436000	0.28706	CGA		0.423	CR1-012	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000382527.1	NM_000573		3	61	0	0	0	1	0	3	61				
CACNA1F	778	broad.mit.edu	37	X	49063294	49063294	+	Missense_Mutation	SNP	C	C	T			TCGA-HT-7608-01A-11D-2086-08	TCGA-HT-7608-10A-01D-2086-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	89a5c656-38cc-4852-ac49-3a7ca6d164a0	1284b1b6-b9f7-4ee6-9ae2-f7da19f9deb6	g.chrX:49063294C>T	ENST00000376265.2	-	45	5348	c.5287G>A	c.(5287-5289)Gca>Aca	p.A1763T	CACNA1F_ENST00000376251.1_Missense_Mutation_p.A1698T|CACNA1F_ENST00000323022.5_Missense_Mutation_p.A1752T	NM_005183.2	NP_005174.2	O60840	CAC1F_HUMAN	calcium channel, voltage-dependent, L type, alpha 1F subunit	1763					axonogenesis (GO:0007409)|calcium ion import (GO:0070509)|cellular calcium ion homeostasis (GO:0006874)|dendrite morphogenesis (GO:0048813)|detection of light stimulus involved in visual perception (GO:0050908)|membrane depolarization during action potential (GO:0086010)|retina development in camera-type eye (GO:0060041)|visual perception (GO:0007601)	integral component of membrane (GO:0016021)|perikaryon (GO:0043204)|photoreceptor outer segment (GO:0001750)|voltage-gated calcium channel complex (GO:0005891)	high voltage-gated calcium channel activity (GO:0008331)|metal ion binding (GO:0046872)|voltage-gated calcium channel activity (GO:0005245)			autonomic_ganglia(1)|breast(8)|central_nervous_system(3)|endometrium(14)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(17)|lung(24)|ovary(5)|prostate(3)|skin(4)|urinary_tract(1)	85					Cinnarizine(DB00568)|Clevidipine(DB04920)|Dronedarone(DB04855)|Nimodipine(DB00393)|Spironolactone(DB00421)|Verapamil(DB00661)	GGAGTCCCTGCCTGCTCATCT	0.637																																						ENST00000376265.2																			0				autonomic_ganglia(1)|breast(8)|central_nervous_system(3)|endometrium(14)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(17)|lung(24)|ovary(5)|prostate(3)|skin(4)|urinary_tract(1)	85						c.(5287-5289)Gca>Aca		calcium channel, voltage-dependent, L type, alpha 1F subunit	Verapamil(DB00661)						53.0	51.0	52.0					X																	49063294		2203	4300	6503	SO:0001583	missense	778				axon guidance|detection of light stimulus involved in visual perception	voltage-gated calcium channel complex	protein binding|voltage-gated calcium channel activity	g.chrX:49063294C>T	AA019975	CCDS35253.1, CCDS59166.1, CCDS59167.1	Xp11.23	2013-01-23	2007-02-16		ENSG00000102001	ENSG00000102001		"""Calcium channel subunits"", ""Voltage-gated ion channels / Calcium channels"""	1393	protein-coding gene	gene with protein product		300110	"""Aland island eye disease (Forsius-Eriksson ocular albinism, ocular albinism type 2)"""	CSNB2, AIED		9344658, 9662400, 16382099, 12111638, 17525176	Standard	NM_005183		Approved	Cav1.4, JM8, JMC8, CSNBX2, CORDX3, CSNB2A, OA2	uc010nip.3	O60840	OTTHUMG00000022703	ENST00000376265.2:c.5287G>A	X.37:g.49063294C>T	ENSP00000365441:p.Ala1763Thr					CACNA1F_ENST00000376251.1_Missense_Mutation_p.A1698T|CACNA1F_ENST00000323022.5_Missense_Mutation_p.A1752T	p.A1763T	NM_005183.2	NP_005174.2	O60840	CAC1F_HUMAN			45	5348	-			1763					A6NI29|F5CIQ9|O43901|O95226|Q9UHB1	Missense_Mutation	SNP	ENST00000376265.2	37	c.5287G>A	CCDS35253.1	.	.	.	.	.	.	.	.	.	.	C	11.52	1.663177	0.29515	.	.	ENSG00000102001	ENST00000376251;ENST00000323022;ENST00000376265	D;D;D	0.96265	-3.96;-3.88;-3.88	5.6	-1.74	0.08056	.	2.110680	0.02198	N	0.061997	D	0.90731	0.7091	N	0.19112	0.55	0.09310	N	1	B;B	0.06786	0.001;0.0	B;B	0.08055	0.003;0.0	T	0.82621	-0.0367	10	0.22706	T	0.39	.	5.251	0.15522	0.0:0.3203:0.2093:0.4704	.	1752;1763	F5CIQ9;O60840	.;CAC1F_HUMAN	T	1698;1752;1763	ENSP00000365427:A1698T;ENSP00000321618:A1752T;ENSP00000365441:A1763T	ENSP00000321618:A1752T	A	-	1	0	CACNA1F	48950238	0.000000	0.05858	0.117000	0.21633	0.733000	0.41908	-1.190000	0.03058	-0.047000	0.13423	-0.295000	0.09555	GCA		0.637	CACNA1F-007	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000358157.1	NM_005183		3	37	0	0	0	1	0	3	37				
DNM2	1785	broad.mit.edu	37	19	10908139	10908139	+	Intron	SNP	G	G	T			TCGA-HT-7608-01A-11D-2086-08	TCGA-HT-7608-10A-01D-2086-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	89a5c656-38cc-4852-ac49-3a7ca6d164a0	1284b1b6-b9f7-4ee6-9ae2-f7da19f9deb6	g.chr19:10908139G>T	ENST00000355667.6	+	11	1415				DNM2_ENST00000359692.6_Intron|DNM2_ENST00000585892.1_Intron|DNM2_ENST00000408974.4_Missense_Mutation_p.C427F|DNM2_ENST00000389253.4_Missense_Mutation_p.C427F|DNM2_ENST00000314646.5_Missense_Mutation_p.C427F	NM_001005360.2|NM_001190716.1	NP_001005360.1|NP_001177645.1	P50570	DYN2_HUMAN	dynamin 2						antigen processing and presentation of exogenous peptide antigen via MHC class II (GO:0019886)|cell death (GO:0008219)|endocytosis (GO:0006897)|G2/M transition of mitotic cell cycle (GO:0000086)|GTP catabolic process (GO:0006184)|membrane organization (GO:0061024)|nitric oxide metabolic process (GO:0046209)|positive regulation of apoptotic process (GO:0043065)|positive regulation of transcription, DNA-templated (GO:0045893)|post-Golgi vesicle-mediated transport (GO:0006892)|receptor internalization (GO:0031623)|regulation of nitric-oxide synthase activity (GO:0050999)|regulation of transcription, DNA-templated (GO:0006355)|signal transduction (GO:0007165)|small molecule metabolic process (GO:0044281)|synaptic vesicle transport (GO:0048489)|transferrin transport (GO:0033572)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|endocytic vesicle membrane (GO:0030666)|extracellular vesicular exosome (GO:0070062)|focal adhesion (GO:0005925)|Golgi apparatus (GO:0005794)|Golgi membrane (GO:0000139)|microtubule (GO:0005874)|plasma membrane (GO:0005886)|postsynaptic membrane (GO:0045211)	enzyme binding (GO:0019899)|GTP binding (GO:0005525)|GTPase activity (GO:0003924)|microtubule binding (GO:0008017)			breast(2)|central_nervous_system(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(6)|kidney(2)|large_intestine(10)|lung(11)|ovary(2)|skin(3)|upper_aerodigestive_tract(2)	42			Epithelial(33;4.17e-05)|all cancers(31;8.48e-05)			AGTTTGAAGTGTGTTGATCTC	0.517			"""F, N, Splice, Mis, O"""		ETP ALL																																	ENST00000314646.5				Rec	yes		19	19p13.2	1785	"""F, N, Splice, Mis, O"""	dynamin 2			L			ETP ALL		0				breast(2)|central_nervous_system(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(6)|kidney(2)|large_intestine(10)|lung(11)|ovary(2)|skin(3)|upper_aerodigestive_tract(2)	42						c.(1279-1281)tGt>tTt		dynamin 2							119.0	105.0	110.0					19																	10908139		2203	4300	6503	SO:0001627	intron_variant	1785				G2/M transition of mitotic cell cycle|positive regulation of apoptosis|positive regulation of transcription, DNA-dependent|post-Golgi vesicle-mediated transport|receptor internalization|signal transduction|synaptic vesicle transport|transferrin transport	cell junction|cytosol|Golgi membrane|microtubule|postsynaptic density|postsynaptic membrane	GTP binding|GTPase activity|microtubule binding	g.chr19:10908139G>T		CCDS32907.1, CCDS32908.1, CCDS45968.1, CCDS45969.1, CCDS59351.1	19p	2014-09-17						"""Pleckstrin homology (PH) domain containing"""	2974	protein-coding gene	gene with protein product	"""dynamin II"", ""cytoskeletal protein"""	602378				7590285, 9143510	Standard	NM_001190716		Approved	DYNII, DYN2, CMTDIB, CMTDI1, DI-CMTB	uc002mps.2	P50570		ENST00000355667.6:c.1336-1023G>T	19.37:g.10908139G>T						DNM2_ENST00000585892.1_Intron|DNM2_ENST00000408974.4_Missense_Mutation_p.C427F|DNM2_ENST00000359692.6_Intron|DNM2_ENST00000389253.4_Missense_Mutation_p.C427F|DNM2_ENST00000355667.6_Intron	p.C427F			P50570	DYN2_HUMAN	Epithelial(33;4.17e-05)|all cancers(31;8.48e-05)		10	1444	+			427					A8K1B6|E7EV30|E9PEQ4|K7ESI9|Q5I0Y0|Q7Z5S3|Q9UPH4	Missense_Mutation	SNP	ENST00000355667.6	37	c.1280G>T	CCDS45968.1	.	.	.	.	.	.	.	.	.	.	G	24.1	4.495179	0.85069	.	.	ENSG00000079805	ENST00000389252;ENST00000408974;ENST00000389253;ENST00000314646	T;T;T	0.75367	-0.93;-0.93;-0.93	5.44	5.44	0.79542	.	0.000000	0.85682	D	0.000000	D	0.91219	0.7233	H	0.96889	3.9	0.80722	D	1	P;P;D	0.89917	0.729;0.491;1.0	B;B;D	0.91635	0.429;0.429;0.999	D	0.93943	0.7225	10	0.87932	D	0	-2.179	18.0235	0.89262	0.0:0.0:1.0:0.0	.	160;427;427	B4DJ53;A8K1B6;E9PEQ4	.;.;.	F	416;427;427;427	ENSP00000386192:C427F;ENSP00000373905:C427F;ENSP00000313164:C427F	ENSP00000313164:C427F	C	+	2	0	DNM2	10769139	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	9.666000	0.98612	2.557000	0.86248	0.655000	0.94253	TGT		0.517	DNM2-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000452592.1	NM_004945		19	63	1	0	6.44725e-10	1	6.75426e-10	19	63				
EIF2B1	1967	broad.mit.edu	37	12	124111689	124111689	+	Silent	SNP	G	G	A	rs146748240	byFrequency	TCGA-HT-7608-01A-11D-2086-08	TCGA-HT-7608-10A-01D-2086-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	89a5c656-38cc-4852-ac49-3a7ca6d164a0	1284b1b6-b9f7-4ee6-9ae2-f7da19f9deb6	g.chr12:124111689G>A	ENST00000424014.2	-	5	592	c.384C>T	c.(382-384)caC>caT	p.H128H	EIF2B1_ENST00000537073.1_Silent_p.H128H|EIF2B1_ENST00000539951.1_Silent_p.H115H	NM_001414.3	NP_001405.1	Q14232	EI2BA_HUMAN	eukaryotic translation initiation factor 2B, subunit 1 alpha, 26kDa	128					cellular protein metabolic process (GO:0044267)|cellular response to stimulus (GO:0051716)|gene expression (GO:0010467)|negative regulation of translational initiation in response to stress (GO:0032057)|oligodendrocyte development (GO:0014003)|positive regulation of GTPase activity (GO:0043547)|regulation of translational initiation (GO:0006446)|response to glucose (GO:0009749)|response to heat (GO:0009408)|response to peptide hormone (GO:0043434)|translation (GO:0006412)|translational initiation (GO:0006413)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|eukaryotic translation initiation factor 2B complex (GO:0005851)|membrane (GO:0016020)|plasma membrane (GO:0005886)	enzyme regulator activity (GO:0030234)|GDP binding (GO:0019003)|GTP binding (GO:0005525)|translation initiation factor activity (GO:0003743)			breast(1)|kidney(3)|large_intestine(2)|lung(3)|urinary_tract(1)	10	all_neural(191;0.101)|Medulloblastoma(191;0.163)			OV - Ovarian serous cystadenocarcinoma(86;6.67e-05)|Epithelial(86;0.000353)|all cancers(50;0.00489)		TGGAGTAGGCGTGAGTCAATA	0.562																																						ENST00000424014.2																			0				breast(1)|kidney(3)|large_intestine(2)|lung(3)|urinary_tract(1)	10						c.(382-384)caC>caT		eukaryotic translation initiation factor 2B, subunit 1 alpha, 26kDa		G		0,4406		0,0,2203	112.0	96.0	101.0		384	-4.0	0.9	12	dbSNP_134	101	3,8597	3.0+/-9.4	0,3,4297	no	coding-synonymous	EIF2B1	NM_001414.3		0,3,6500	AA,AG,GG		0.0349,0.0,0.0231		128/306	124111689	3,13003	2203	4300	6503	SO:0001819	synonymous_variant	1967				cellular response to stimulus|oligodendrocyte development|regulation of translational initiation|response to glucose stimulus|response to heat|response to peptide hormone stimulus	cytosol|eukaryotic translation initiation factor 2B complex|membrane fraction|plasma membrane	protein binding|translation initiation factor activity	g.chr12:124111689G>A	X95648	CCDS31924.1	12q24.3	1998-10-16	2002-08-29		ENSG00000111361	ENSG00000111361			3257	protein-coding gene	gene with protein product		606686	"""eukaryotic translation initiation factor 2B, subunit 1 (alpha, 26kD)"""	EIF2B			Standard	NM_001414		Approved	EIF-2Balpha, EIF-2B, EIF2BA	uc001ufm.3	Q14232	OTTHUMG00000168696	ENST00000424014.2:c.384C>T	12.37:g.124111689G>A						EIF2B1_ENST00000539951.1_Silent_p.H115H|EIF2B1_ENST00000537073.1_Silent_p.H128H	p.H128H	NM_001414.3	NP_001405.1	Q14232	EI2BA_HUMAN		OV - Ovarian serous cystadenocarcinoma(86;6.67e-05)|Epithelial(86;0.000353)|all cancers(50;0.00489)	5	592	-	all_neural(191;0.101)|Medulloblastoma(191;0.163)		128					A6NLY9|B4DGX0|Q3SXP4	Silent	SNP	ENST00000424014.2	37	c.384C>T	CCDS31924.1																																																																																				0.562	EIF2B1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000400628.1	NM_001414		8	120	0	0	0	1	0	8	120				
SLC6A10P	386757	broad.mit.edu	37	16	32890950	32890950	+	RNA	SNP	A	A	G	rs151263854		TCGA-HT-7608-01A-11D-2086-08	TCGA-HT-7608-10A-01D-2086-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	89a5c656-38cc-4852-ac49-3a7ca6d164a0	1284b1b6-b9f7-4ee6-9ae2-f7da19f9deb6	g.chr16:32890950A>G	ENST00000330048.5	-	0	3016					NR_003083.2				solute carrier family 6 (neurotransmitter transporter), member 10, pseudogene																		ATACACCCAGACCACCACCAC	0.637																																						ENST00000330048.5																			0																																																			0							g.chr16:32890950A>G	U41163		16p11.2	2013-07-19	2013-07-19	2013-07-19	ENSG00000214617	ENSG00000214617		"""Solute carriers"""	11043	pseudogene	pseudogene	"""creatine transporter-2"""		"""solute carrier family 6 (neurotransmitter transporter, creatine), member 10"""	SLC6A10		9154116	Standard	NR_003083		Approved	CT-2	uc002edh.1		OTTHUMG00000132481		16.37:g.32890950A>G								NR_003083.2						0	3016	-									RNA	SNP	ENST00000330048.5	37																																																																																						0.637	SLC6A10P-002	KNOWN	basic	processed_transcript	pseudogene	OTTHUMT00000432081.2			3	39	0	0	0	1	0	3	39				
POTEC	388468	broad.mit.edu	37	18	14543092	14543092	+	Silent	SNP	G	G	A	rs45502401	byFrequency	TCGA-HT-7608-01A-11D-2086-08	TCGA-HT-7608-10A-01D-2086-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	89a5c656-38cc-4852-ac49-3a7ca6d164a0	1284b1b6-b9f7-4ee6-9ae2-f7da19f9deb6	g.chr18:14543092G>A	ENST00000358970.5	-	1	53	c.54C>T	c.(52-54)ttC>ttT	p.F18F	POTEC_ENST00000389891.4_5'UTR	NM_001137671.1	NP_001131143.1	B2RU33	POTEC_HUMAN	POTE ankyrin domain family, member C	18										NS(2)|breast(1)|endometrium(9)|kidney(13)|lung(14)|prostate(3)|skin(6)|soft_tissue(1)|urinary_tract(3)	52						TCCTGAGATCGAATGGCTTCT	0.572																																						ENST00000358970.5																			0				NS(2)|breast(1)|endometrium(9)|kidney(13)|lung(14)|prostate(3)|skin(6)|soft_tissue(1)|urinary_tract(3)	52						c.(52-54)ttC>ttT		POTE ankyrin domain family, member C							125.0	104.0	111.0					18																	14543092		692	1591	2283	SO:0001819	synonymous_variant	388468							g.chr18:14543092G>A	BX649118	CCDS45835.1	18p11.21	2013-01-10	2008-11-26	2008-11-26	ENSG00000183206	ENSG00000183206		"""POTE ankyrin domain containing"", ""Ankyrin repeat domain containing"""	33894	protein-coding gene	gene with protein product	"""cancer/testis antigen family 104, member 6"""		"""ANKRD26-like family B, member 2"""	A26B2			Standard	NM_001137671		Approved	POTE18, POTE-18, DKFZp686J0529, CT104.6	uc010dln.3	B2RU33	OTTHUMG00000162963	ENST00000358970.5:c.54C>T	18.37:g.14543092G>A						POTEC_ENST00000389891.4_5'UTR	p.F18F	NM_001137671.1	NP_001131143.1	B2RU33	POTEC_HUMAN			1	53	-			18						Silent	SNP	ENST00000358970.5	37	c.54C>T	CCDS45835.1																																																																																				0.572	POTEC-002	KNOWN	not_best_in_genome_evidence|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000371179.1	XM_496269		5	114	0	0	0	1	0	5	114				
SDHAP1	255812	broad.mit.edu	37	3	195701278	195701278	+	RNA	SNP	C	C	T	rs200131790	byFrequency	TCGA-HT-7608-01A-11D-2086-08	TCGA-HT-7608-10A-01D-2086-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	89a5c656-38cc-4852-ac49-3a7ca6d164a0	1284b1b6-b9f7-4ee6-9ae2-f7da19f9deb6	g.chr3:195701278C>T	ENST00000427841.1	-	0	1546					NR_003264.2				succinate dehydrogenase complex, subunit A, flavoprotein pseudogene 1																		CAGGCCTGCACGACTCTGCGA	0.537																																					Ovarian(67;1158 1227 12109 20189 43170)	ENST00000427841.1																			0																																																			0							g.chr3:195701278C>T	BC071730		3q29	2009-12-02	2006-11-21	2009-12-02	ENSG00000185485	ENSG00000185485			32455	pseudogene	pseudogene			"""succinate dehydrogenase complex, subunit A, flavoprotein-like 1"""	SDHAL1, SDHALP1			Standard	NR_003264		Approved		uc003fvy.3		OTTHUMG00000155716		3.37:g.195701278C>T								NR_003264.2						0	1546	-									RNA	SNP	ENST00000427841.1	37																																																																																						0.537	SDHAP1-002	KNOWN	basic	processed_transcript	pseudogene	OTTHUMT00000341367.1			5	28	0	0	0	1	0	5	28				
UGT2B28	54490	broad.mit.edu	37	4	70146857	70146857	+	Silent	SNP	C	C	T	rs542781153		TCGA-HT-7608-01A-11D-2086-08	TCGA-HT-7608-10A-01D-2086-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	89a5c656-38cc-4852-ac49-3a7ca6d164a0	1284b1b6-b9f7-4ee6-9ae2-f7da19f9deb6	g.chr4:70146857C>T	ENST00000335568.5	+	1	641	c.639C>T	c.(637-639)aaC>aaT	p.N213N	UGT2B28_ENST00000511240.1_Silent_p.N213N	NM_053039.1	NP_444267.1	Q9BY64	UDB28_HUMAN	UDP glucuronosyltransferase 2 family, polypeptide B28	213					metabolic process (GO:0008152)|xenobiotic metabolic process (GO:0006805)	endoplasmic reticulum (GO:0005783)|integral component of membrane (GO:0016021)	glucuronosyltransferase activity (GO:0015020)			central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(4)|lung(16)|pancreas(1)|prostate(1)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)	31						GGGTAAAAAACATGATCTATG	0.348													-|||	1	0.000199681	0.0	0.0	5008	,	,		15689	0.0		0.001	False		,,,				2504	0.0					ENST00000335568.5																			0				central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(4)|lung(16)|pancreas(1)|prostate(1)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)	31						c.(637-639)aaC>aaT		UDP glucuronosyltransferase 2 family, polypeptide B28	Flunitrazepam(DB01544)						68.0	72.0	71.0					4																	70146857		2027	4227	6254	SO:0001819	synonymous_variant	54490				xenobiotic metabolic process	endoplasmic reticulum membrane|integral to membrane|microsome	glucuronosyltransferase activity	g.chr4:70146857C>T	AF177272	CCDS3528.1, CCDS56330.1	4q13.3	2011-02-09	2005-07-20		ENSG00000135226	ENSG00000135226		"""UDP glucuronosyltransferases"""	13479	protein-coding gene	gene with protein product		606497	"""UDP glycosyltransferase 2 family, polypeptide B28"""			11300766	Standard	NM_053039		Approved		uc003hej.3	Q9BY64	OTTHUMG00000129401	ENST00000335568.5:c.639C>T	4.37:g.70146857C>T						UGT2B28_ENST00000511240.1_Silent_p.N213N	p.N213N	NM_053039.1	NP_444267.1	Q9BY64	UDB28_HUMAN			1	641	+			213					B5BUM0|Q9BY62|Q9BY63	Silent	SNP	ENST00000335568.5	37	c.639C>T	CCDS3528.1																																																																																				0.348	UGT2B28-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000251557.2	NM_053039		4	79	0	0	0	1	0	4	79				
MYH8	4626	broad.mit.edu	37	17	10299697	10299697	+	Nonsense_Mutation	SNP	G	G	A			TCGA-HT-7608-01A-11D-2086-08	TCGA-HT-7608-10A-01D-2086-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	89a5c656-38cc-4852-ac49-3a7ca6d164a0	1284b1b6-b9f7-4ee6-9ae2-f7da19f9deb6	g.chr17:10299697G>A	ENST00000403437.2	-	33	4697	c.4603C>T	c.(4603-4605)Caa>Taa	p.Q1535*	RP11-799N11.1_ENST00000581304.1_RNA|RP11-799N11.1_ENST00000399342.2_RNA|CTC-297N7.11_ENST00000587182.2_RNA	NM_002472.2	NP_002463.2	P13535	MYH8_HUMAN	myosin, heavy chain 8, skeletal muscle, perinatal	1535					ATP catabolic process (GO:0006200)|muscle contraction (GO:0006936)|muscle filament sliding (GO:0030049)|skeletal muscle contraction (GO:0003009)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|muscle myosin complex (GO:0005859)|myosin filament (GO:0032982)|sarcomere (GO:0030017)	actin filament binding (GO:0051015)|ATP binding (GO:0005524)|ATPase activity (GO:0016887)|microfilament motor activity (GO:0000146)|myosin light chain binding (GO:0032027)|structural constituent of muscle (GO:0008307)			NS(3)|breast(8)|central_nervous_system(2)|endometrium(11)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(23)|lung(61)|ovary(3)|prostate(3)|skin(10)|upper_aerodigestive_tract(2)|urinary_tract(2)	134						TGTTCTACTTGCTTCTTTATT	0.383									Trismus-Pseudocamptodactyly Syndrome with Cardiac Myxoma and Freckling																													ENST00000403437.2																			0				NS(3)|breast(8)|central_nervous_system(2)|endometrium(11)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(23)|lung(61)|ovary(3)|prostate(3)|skin(10)|upper_aerodigestive_tract(2)|urinary_tract(2)	134						c.(4603-4605)Caa>Taa		myosin, heavy chain 8, skeletal muscle, perinatal							167.0	147.0	154.0					17																	10299697		2203	4300	6503	SO:0001587	stop_gained	4626	Trismus-Pseudocamptodactyly Syndrome with Cardiac Myxoma and Freckling	Familial Cancer Database	Carney Complex Variant	muscle filament sliding	cytosol|muscle myosin complex|myofibril|myosin filament	actin binding|ATP binding|calmodulin binding|motor activity|structural constituent of muscle	g.chr17:10299697G>A		CCDS11153.1	17p13.1	2013-09-19	2006-09-29		ENSG00000133020	ENSG00000133020		"""Myosins / Myosin superfamily : Class II"""	7578	protein-coding gene	gene with protein product		160741	"""myosin, heavy polypeptide 8, skeletal muscle, perinatal"""			2373371	Standard	NM_002472		Approved	MyHC-peri, MyHC-pn	uc002gmm.2	P13535	OTTHUMG00000130361	ENST00000403437.2:c.4603C>T	17.37:g.10299697G>A	ENSP00000384330:p.Gln1535*					CTC-297N7.7_ENST00000399342.2_RNA|CTC-297N7.7_ENST00000581304.1_RNA|CTC-297N7.7_ENST00000587182.1_RNA	p.Q1535*	NM_002472.2	NP_002463.2	P13535	MYH8_HUMAN			33	4697	-			1535					Q14910	Nonsense_Mutation	SNP	ENST00000403437.2	37	c.4603C>T	CCDS11153.1	.	.	.	.	.	.	.	.	.	.	G	43	10.152561	0.99348	.	.	ENSG00000133020	ENST00000252173;ENST00000403437	.	.	.	5.26	5.26	0.73747	.	0.000000	0.40144	U	0.001177	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.28530	T	0.3	.	19.0697	0.93127	0.0:0.0:1.0:0.0	.	.	.	.	X	1535	.	ENSP00000252173:Q1535X	Q	-	1	0	MYH8	10240422	0.998000	0.40836	1.000000	0.80357	0.996000	0.88848	3.674000	0.54598	2.744000	0.94065	0.650000	0.86243	CAA		0.383	MYH8-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000252724.2	NM_002472		5	24	0	0	0	1	0	5	24				
EP400NL	347918	broad.mit.edu	37	12	132589649	132589649	+	Missense_Mutation	SNP	C	C	T	rs34521142	byFrequency	TCGA-HT-7608-01A-11D-2086-08	TCGA-HT-7608-10A-01D-2086-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	89a5c656-38cc-4852-ac49-3a7ca6d164a0	1284b1b6-b9f7-4ee6-9ae2-f7da19f9deb6	g.chr12:132589649C>T	ENST00000376625.4	+	1	1110	c.1084C>T	c.(1084-1086)Cac>Tac	p.H362Y	EP400NL_ENST00000389560.2_Missense_Mutation_p.H293Y|EP400NL_ENST00000443539.2_Missense_Mutation_p.H230Y|EP400NL_ENST00000361109.5_Missense_Mutation_p.H209Y|EP400NL_ENST00000392352.1_Missense_Mutation_p.H230Y			Q6ZTU2	E400N_HUMAN	EP400 N-terminal like	362										endometrium(1)|lung(1)|prostate(2)|urinary_tract(1)	5						GGACTATCATCACCAGGAGAT	0.478																																						ENST00000376625.4																			0				endometrium(1)|lung(1)|prostate(2)|urinary_tract(1)	5						c.(1084-1086)Cac>Tac		EP400 N-terminal like							123.0	139.0	134.0					12																	132589649		692	1591	2283	SO:0001583	missense	347918							g.chr12:132589649C>T	AK091234		12q24.33	2013-02-15			ENSG00000185684	ENSG00000185684			26602	protein-coding gene	gene with protein product						12477932	Standard	NR_003290		Approved	FLJ33915	uc009zyq.3	Q6ZTU2	OTTHUMG00000168251	ENST00000376625.4:c.1084C>T	12.37:g.132589649C>T	ENSP00000365812:p.His362Tyr					EP400NL_ENST00000361109.5_Missense_Mutation_p.H209Y|EP400NL_ENST00000389560.2_Missense_Mutation_p.H293Y|EP400NL_ENST00000392352.1_Missense_Mutation_p.H230Y|EP400NL_ENST00000443539.2_Missense_Mutation_p.H230Y	p.H362Y							1	1110	+								A6NLB7|A8K0Z5|B3KQY2|Q6NXP1|Q8N253|Q8N7S7|Q9UFJ3	Missense_Mutation	SNP	ENST00000376625.4	37	c.1084C>T		.	.	.	.	.	.	.	.	.	.	T	0.020	-1.441841	0.01098	.	.	ENSG00000185684	ENST00000389560;ENST00000443539;ENST00000392352;ENST00000361109;ENST00000376625	.	.	.	2.98	0.506	0.16961	.	0.599767	0.12505	N	0.462987	T	0.17365	0.0417	.	.	.	0.80722	P	0.0	B;B;B;B	0.06786	0.0;0.001;0.0;0.0	B;B;B;B	0.08055	0.0;0.003;0.001;0.002	T	0.41662	-0.9496	7	0.02654	T	1	.	8.3172	0.32108	0.0:0.6828:0.0:0.3172	rs34521142;rs59017016	209;362;230;362	C9JIE5;Q6ZTU2-6;Q6ZTU2-5;Q6ZTU2	.;.;.;E400N_HUMAN	Y	293;230;230;209;362	.	ENSP00000328997:H294Y	H	+	1	0	EP400NL	131155602	0.270000	0.24152	0.980000	0.43619	0.887000	0.51463	0.287000	0.18920	-0.161000	0.10983	-0.893000	0.02921	CAC		0.478	EP400NL-202	KNOWN	basic|appris_candidate_longest	protein_coding	protein_coding		NM_182613		3	22	0	0	0	1	0	3	22				
OTOP1	133060	broad.mit.edu	37	4	4199681	4199681	+	Missense_Mutation	SNP	G	G	A	rs537569170		TCGA-HT-7608-01A-11D-2086-08	TCGA-HT-7608-10A-01D-2086-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	89a5c656-38cc-4852-ac49-3a7ca6d164a0	1284b1b6-b9f7-4ee6-9ae2-f7da19f9deb6	g.chr4:4199681G>A	ENST00000296358.4	-	5	904	c.880C>T	c.(880-882)Cgc>Tgc	p.R294C		NM_177998.1	NP_819056.1	Q7RTM1	OTOP1_HUMAN	otopetrin 1	294					biomineral tissue development (GO:0031214)|detection of gravity (GO:0009590)|inner ear morphogenesis (GO:0042472)	extracellular region (GO:0005576)|integral component of membrane (GO:0016021)		p.R294C(1)		NS(1)|breast(1)|central_nervous_system(2)|endometrium(1)|kidney(2)|large_intestine(3)|liver(4)|lung(14)|ovary(2)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)	34				UCEC - Uterine corpus endometrioid carcinoma (64;0.168)		TCAACTTTGCGCCCGATGTTC	0.567																																						ENST00000296358.4																			1	Substitution - Missense(1)	p.R294C(1)	liver(1)	NS(1)|breast(1)|central_nervous_system(2)|endometrium(1)|kidney(2)|large_intestine(3)|liver(4)|lung(14)|ovary(2)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)	34						c.(880-882)Cgc>Tgc		otopetrin 1							75.0	67.0	70.0					4																	4199681		2203	4300	6503	SO:0001583	missense	133060				biomineral tissue development	extracellular space|integral to membrane		g.chr4:4199681G>A	BK000653	CCDS3372.1	4p16.2	2008-02-05			ENSG00000163982	ENSG00000163982			19656	protein-coding gene	gene with protein product		607806				12651873	Standard	NM_177998		Approved		uc003ghp.1	Q7RTM1	OTTHUMG00000090301	ENST00000296358.4:c.880C>T	4.37:g.4199681G>A	ENSP00000296358:p.Arg294Cys						p.R294C	NM_177998.1	NP_819056.1	Q7RTM1	OTOP1_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (64;0.168)	5	904	-			294					A1L476	Missense_Mutation	SNP	ENST00000296358.4	37	c.880C>T	CCDS3372.1	.	.	.	.	.	.	.	.	.	.	G	15.77	2.930309	0.52866	.	.	ENSG00000163982	ENST00000296358	T	0.26518	1.73	4.56	4.56	0.56223	.	0.106321	0.64402	D	0.000005	T	0.55625	0.1932	M	0.83384	2.64	0.80722	D	1	D	0.89917	1.0	D	0.79108	0.992	T	0.64537	-0.6384	10	0.87932	D	0	.	17.7176	0.88342	0.0:0.0:1.0:0.0	.	294	Q7RTM1	OTOP1_HUMAN	C	294	ENSP00000296358:R294C	ENSP00000296358:R294C	R	-	1	0	OTOP1	4250582	1.000000	0.71417	0.947000	0.38551	0.303000	0.27691	4.941000	0.63540	2.270000	0.75569	0.404000	0.27445	CGC		0.567	OTOP1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000206661.2	NM_177998		29	71	0	0	0	1	0	29	71				
NF1	4763	broad.mit.edu	37	17	29562639	29562639	+	Missense_Mutation	SNP	C	C	G			TCGA-HT-7608-01A-11D-2086-08	TCGA-HT-7608-10A-01D-2086-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	89a5c656-38cc-4852-ac49-3a7ca6d164a0	1284b1b6-b9f7-4ee6-9ae2-f7da19f9deb6	g.chr17:29562639C>G	ENST00000358273.4	+	28	4102	c.3719C>G	c.(3718-3720)gCt>gGt	p.A1240G	NF1_ENST00000356175.3_Missense_Mutation_p.A1240G	NM_001042492.2	NP_001035957.1	P21359	NF1_HUMAN	neurofibromin 1	1240	Ras-GAP. {ECO:0000255|PROSITE- ProRule:PRU00167}.				actin cytoskeleton organization (GO:0030036)|adrenal gland development (GO:0030325)|artery morphogenesis (GO:0048844)|brain development (GO:0007420)|camera-type eye morphogenesis (GO:0048593)|cell communication (GO:0007154)|cerebral cortex development (GO:0021987)|cognition (GO:0050890)|collagen fibril organization (GO:0030199)|extracellular matrix organization (GO:0030198)|extrinsic apoptotic signaling pathway via death domain receptors (GO:0008625)|forebrain astrocyte development (GO:0021897)|forebrain morphogenesis (GO:0048853)|heart development (GO:0007507)|liver development (GO:0001889)|MAPK cascade (GO:0000165)|metanephros development (GO:0001656)|myelination in peripheral nervous system (GO:0022011)|negative regulation of angiogenesis (GO:0016525)|negative regulation of astrocyte differentiation (GO:0048712)|negative regulation of cell migration (GO:0030336)|negative regulation of cell-matrix adhesion (GO:0001953)|negative regulation of endothelial cell proliferation (GO:0001937)|negative regulation of fibroblast proliferation (GO:0048147)|negative regulation of MAP kinase activity (GO:0043407)|negative regulation of MAPK cascade (GO:0043409)|negative regulation of neuroblast proliferation (GO:0007406)|negative regulation of neurotransmitter secretion (GO:0046929)|negative regulation of oligodendrocyte differentiation (GO:0048715)|negative regulation of osteoclast differentiation (GO:0045671)|negative regulation of protein kinase activity (GO:0006469)|negative regulation of Rac protein signal transduction (GO:0035021)|negative regulation of Ras protein signal transduction (GO:0046580)|negative regulation of transcription factor import into nucleus (GO:0042992)|neural tube development (GO:0021915)|osteoblast differentiation (GO:0001649)|peripheral nervous system development (GO:0007422)|phosphatidylinositol 3-kinase signaling (GO:0014065)|pigmentation (GO:0043473)|positive regulation of adenylate cyclase activity (GO:0045762)|positive regulation of apoptotic process (GO:0043065)|positive regulation of endothelial cell proliferation (GO:0001938)|positive regulation of extrinsic apoptotic signaling pathway in absence of ligand (GO:2001241)|positive regulation of extrinsic apoptotic signaling pathway via death domain receptors (GO:1902043)|positive regulation of neuron apoptotic process (GO:0043525)|positive regulation of Ras GTPase activity (GO:0032320)|Ras protein signal transduction (GO:0007265)|regulation of angiogenesis (GO:0045765)|regulation of blood vessel endothelial cell migration (GO:0043535)|regulation of bone resorption (GO:0045124)|regulation of cell-matrix adhesion (GO:0001952)|regulation of glial cell differentiation (GO:0045685)|regulation of long-term neuronal synaptic plasticity (GO:0048169)|regulation of Ras GTPase activity (GO:0032318)|regulation of synaptic transmission, GABAergic (GO:0032228)|response to hypoxia (GO:0001666)|Schwann cell development (GO:0014044)|skeletal muscle tissue development (GO:0007519)|smooth muscle tissue development (GO:0048745)|spinal cord development (GO:0021510)|sympathetic nervous system development (GO:0048485)|visual learning (GO:0008542)|wound healing (GO:0042060)	axon (GO:0030424)|cytoplasm (GO:0005737)|dendrite (GO:0030425)|intrinsic component of the cytoplasmic side of the plasma membrane (GO:0031235)|membrane (GO:0016020)|nucleus (GO:0005634)	phosphatidylcholine binding (GO:0031210)|phosphatidylethanolamine binding (GO:0008429)|Ras GTPase activator activity (GO:0005099)	p.0?(8)|p.?(4)	NF1/ACCN1(2)	autonomic_ganglia(12)|breast(11)|central_nervous_system(72)|cervix(6)|endometrium(12)|haematopoietic_and_lymphoid_tissue(59)|kidney(9)|large_intestine(39)|liver(1)|lung(80)|ovary(20)|pancreas(2)|prostate(2)|skin(8)|soft_tissue(249)|stomach(2)|thyroid(1)|upper_aerodigestive_tract(5)|urinary_tract(9)	599		all_cancers(10;1.29e-12)|all_epithelial(10;0.00347)|all_hematologic(16;0.00556)|Acute lymphoblastic leukemia(14;0.00593)|Breast(31;0.014)|Myeloproliferative disorder(56;0.0255)|all_lung(9;0.0321)|Lung NSC(157;0.0659)		UCEC - Uterine corpus endometrioid carcinoma (4;4.38e-05)|all cancers(4;1.64e-26)|Epithelial(4;9.15e-23)|OV - Ovarian serous cystadenocarcinoma(4;3.58e-21)|GBM - Glioblastoma multiforme(4;0.00146)		GATGAACTAGCTCGAGTTCTG	0.383			"""D, Mis, N, F, S, O"""		"""neurofibroma, glioma"""	"""neurofibroma, glioma"""			Neurofibromatosis, type 1	TCGA GBM(6;<1E-08)|TSP Lung(7;0.0071)|TCGA Ovarian(3;0.0088)																												ENST00000358273.4			yes	Rec	yes	Neurofibromatosis type 1	17	17q12	4763	"""D, Mis, N, F, S, O"""	neurofibromatosis type 1 gene			O		"""neurofibroma, glioma"""	"""neurofibroma, glioma"""	NF1/ACCN1(2)	12	Whole gene deletion(8)|Unknown(4)	p.0?(8)|p.?(4)	soft_tissue(7)|autonomic_ganglia(2)|central_nervous_system(2)|lung(1)	autonomic_ganglia(12)|breast(11)|central_nervous_system(72)|cervix(6)|endometrium(12)|haematopoietic_and_lymphoid_tissue(59)|kidney(9)|large_intestine(39)|liver(1)|lung(80)|ovary(20)|pancreas(2)|prostate(2)|skin(8)|soft_tissue(249)|stomach(2)|thyroid(1)|upper_aerodigestive_tract(5)|urinary_tract(9)	599						c.(3718-3720)gCt>gGt		neurofibromin 1							227.0	220.0	222.0					17																	29562639		2203	4300	6503	SO:0001583	missense	4763	Neurofibromatosis, type 1	Familial Cancer Database	NF1, von Recklinghausen disease, incl.: Hereditary Spinal Neurofibromatosis, Neurofibromatosis-Noonan syndrome	actin cytoskeleton organization|adrenal gland development|artery morphogenesis|camera-type eye morphogenesis|cerebral cortex development|collagen fibril organization|forebrain astrocyte development|forebrain morphogenesis|heart development|liver development|MAPKKK cascade|metanephros development|myelination in peripheral nervous system|negative regulation of cell migration|negative regulation of endothelial cell proliferation|negative regulation of MAP kinase activity|negative regulation of MAPKKK cascade|negative regulation of neuroblast proliferation|negative regulation of oligodendrocyte differentiation|negative regulation of transcription factor import into nucleus|osteoblast differentiation|phosphatidylinositol 3-kinase cascade|pigmentation|positive regulation of adenylate cyclase activity|positive regulation of neuron apoptosis|Ras protein signal transduction|regulation of blood vessel endothelial cell migration|regulation of bone resorption|response to hypoxia|smooth muscle tissue development|spinal cord development|sympathetic nervous system development|visual learning|wound healing	axon|cytoplasm|dendrite|intrinsic to internal side of plasma membrane|nucleus	protein binding|Ras GTPase activator activity	g.chr17:29562639C>G		CCDS11264.1, CCDS42292.1, CCDS45645.1	17q11.2	2014-09-17	2008-07-31		ENSG00000196712	ENSG00000196712			7765	protein-coding gene	gene with protein product	"""neurofibromatosis"", ""von Recklinghausen disease"", ""Watson disease"""	613113				1715669	Standard	NM_000267		Approved		uc002hgg.3	P21359	OTTHUMG00000132871	ENST00000358273.4:c.3719C>G	17.37:g.29562639C>G	ENSP00000351015:p.Ala1240Gly	TCGA GBM(6;<1E-08)|TSP Lung(7;0.0071)|TCGA Ovarian(3;0.0088)				NF1_ENST00000356175.3_Missense_Mutation_p.A1240G	p.A1240G	NM_001042492.2	NP_001035957.1	P21359	NF1_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (4;4.38e-05)|all cancers(4;1.64e-26)|Epithelial(4;9.15e-23)|OV - Ovarian serous cystadenocarcinoma(4;3.58e-21)|GBM - Glioblastoma multiforme(4;0.00146)	28	4102	+		all_cancers(10;1.29e-12)|all_epithelial(10;0.00347)|all_hematologic(16;0.00556)|Acute lymphoblastic leukemia(14;0.00593)|Breast(31;0.014)|Myeloproliferative disorder(56;0.0255)|all_lung(9;0.0321)|Lung NSC(157;0.0659)	1240			Ras-GAP.		O00662|Q14284|Q14930|Q14931|Q9UMK3	Missense_Mutation	SNP	ENST00000358273.4	37	c.3719C>G	CCDS42292.1	.	.	.	.	.	.	.	.	.	.	C	23.8	4.460651	0.84317	.	.	ENSG00000196712	ENST00000358273;ENST00000356175;ENST00000456735	D;D;D	0.83914	-1.78;-1.78;-1.78	5.79	4.82	0.62117	Rho GTPase activation protein (1);Armadillo-type fold (1);Ras GTPase-activating protein (2);	0.109289	0.64402	D	0.000007	D	0.92156	0.7513	M	0.91612	3.225	0.80722	D	1	D;P;P;D	0.69078	0.997;0.677;0.844;0.988	D;B;P;P	0.68039	0.955;0.253;0.501;0.905	D	0.93270	0.6651	10	0.52906	T	0.07	.	14.8494	0.70284	0.0:0.9313:0.0:0.0687	.	1240;290;1240;1240	E1P657;Q59FX3;P21359-2;P21359	.;.;.;NF1_HUMAN	G	1240;1240;906	ENSP00000351015:A1240G;ENSP00000348498:A1240G;ENSP00000389907:A906G	ENSP00000348498:A1240G	A	+	2	0	NF1	26586765	1.000000	0.71417	1.000000	0.80357	0.995000	0.86356	7.336000	0.79245	1.466000	0.48025	0.555000	0.69702	GCT		0.383	NF1-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000256351.2	NM_000267		10	250	0	0	0	1	0	10	250				
MROH6	642475	broad.mit.edu	37	8	144652155	144652155	+	Missense_Mutation	SNP	G	G	T			TCGA-HT-7608-01A-11D-2086-08	TCGA-HT-7608-10A-01D-2086-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	89a5c656-38cc-4852-ac49-3a7ca6d164a0	1284b1b6-b9f7-4ee6-9ae2-f7da19f9deb6	g.chr8:144652155G>T	ENST00000398882.3	-	7	1380	c.1124C>A	c.(1123-1125)cCg>cAg	p.P375Q	MROH6_ENST00000534459.1_5'Flank|MROH6_ENST00000532704.1_5'Flank|MROH6_ENST00000524906.1_5'Flank|MROH6_ENST00000533679.1_5'Flank	NM_001100878.1	NP_001094348.1	A6NGR9	MROH6_HUMAN	maestro heat-like repeat family member 6	375	Leu-rich.																GAGACGCTGCGGGTCGTCCGC	0.647																																						ENST00000398882.3																			0											c.(1123-1125)cCg>cAg		maestro heat-like repeat family member 6							48.0	61.0	57.0					8																	144652155		2114	4217	6331	SO:0001583	missense	642475							g.chr8:144652155G>T	AF289596	CCDS47928.1	8q24.3	2012-12-19	2012-12-19	2012-12-19	ENSG00000204839	ENSG00000204839		"""maestro heat-like repeat containing"""	27814	protein-coding gene	gene with protein product			"""chromosome 8 open reading frame 73"""	C8orf73		12477932	Standard	NM_001100878		Approved		uc010mff.3	A6NGR9	OTTHUMG00000165164	ENST00000398882.3:c.1124C>A	8.37:g.144652155G>T	ENSP00000381857:p.Pro375Gln						p.P375Q	NM_001100878.1	NP_001094348.1					7	1380	-								A8MWB1	Missense_Mutation	SNP	ENST00000398882.3	37	c.1124C>A	CCDS47928.1	.	.	.	.	.	.	.	.	.	.	g	3.166	-0.171004	0.06421	.	.	ENSG00000204839	ENST00000398882	T	0.39997	1.05	5.23	3.42	0.39159	Armadillo-like helical (1);Armadillo-type fold (1);	1.203110	0.06119	N	0.668506	T	0.25754	0.0627	N	0.03608	-0.345	0.09310	N	0.999995	B	0.33940	0.433	B	0.37144	0.242	T	0.30995	-0.9959	10	0.14252	T	0.57	-14.3954	12.8674	0.57948	0.1483:0.0:0.8517:0.0	.	375	A6NGR9	CH073_HUMAN	Q	375	ENSP00000381857:P375Q	ENSP00000381857:P375Q	P	-	2	0	C8orf73	144723298	0.000000	0.05858	0.041000	0.18516	0.043000	0.13939	0.499000	0.22546	0.225000	0.20959	-2.151000	0.00333	CCG		0.647	MROH6-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000382330.3	NM_001100878		3	70	1	0	1	1	1	3	70				
MYH10	4628	broad.mit.edu	37	17	8449945	8449945	+	Missense_Mutation	SNP	C	C	A			TCGA-HT-7608-01A-11D-2086-08	TCGA-HT-7608-10A-01D-2086-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	89a5c656-38cc-4852-ac49-3a7ca6d164a0	1284b1b6-b9f7-4ee6-9ae2-f7da19f9deb6	g.chr17:8449945C>A	ENST00000269243.4	-	11	1303	c.1165G>T	c.(1165-1167)Gtg>Ttg	p.V389L	MYH10_ENST00000396239.1_Missense_Mutation_p.V389L|MYH10_ENST00000379980.4_Missense_Mutation_p.V405L|RN7SL129P_ENST00000479993.2_RNA|MYH10_ENST00000360416.3_Missense_Mutation_p.V399L	NM_005964.3	NP_005955.3	P35580	MYH10_HUMAN	myosin, heavy chain 10, non-muscle	389	Myosin motor.				actin filament-based movement (GO:0030048)|actomyosin structure organization (GO:0031032)|adult heart development (GO:0007512)|ATP catabolic process (GO:0006200)|axon guidance (GO:0007411)|cardiac myofibril assembly (GO:0055003)|cell adhesion (GO:0007155)|cell proliferation (GO:0008283)|cerebellar Purkinje cell layer development (GO:0021680)|exocytosis (GO:0006887)|fourth ventricle development (GO:0021592)|in utero embryonic development (GO:0001701)|lateral ventricle development (GO:0021670)|mitotic cytokinesis (GO:0000281)|neuromuscular process controlling balance (GO:0050885)|neuron migration (GO:0001764)|nuclear migration (GO:0007097)|plasma membrane repair (GO:0001778)|regulation of cell shape (GO:0008360)|retina development in camera-type eye (GO:0060041)|substrate-dependent cell migration, cell extension (GO:0006930)|third ventricle development (GO:0021678)|ventricular cardiac muscle cell development (GO:0055015)	actomyosin (GO:0042641)|axon (GO:0030424)|cell cortex (GO:0005938)|cleavage furrow (GO:0032154)|cytoplasm (GO:0005737)|dendritic spine (GO:0043197)|extracellular vesicular exosome (GO:0070062)|growth cone (GO:0030426)|midbody (GO:0030496)|myosin complex (GO:0016459)|myosin II complex (GO:0016460)|myosin II filament (GO:0097513)|neuromuscular junction (GO:0031594)|neuronal cell body (GO:0043025)|nucleus (GO:0005634)|plasma membrane (GO:0005886)|spindle (GO:0005819)|stress fiber (GO:0001725)	actin binding (GO:0003779)|actin filament binding (GO:0051015)|actin-dependent ATPase activity (GO:0030898)|ADP binding (GO:0043531)|ATP binding (GO:0005524)|microfilament motor activity (GO:0000146)			breast(5)|endometrium(9)|kidney(2)|large_intestine(16)|lung(9)|ovary(3)|prostate(3)|skin(4)|stomach(1)	52						AACTCCATCACATTCATCCCA	0.433																																						ENST00000360416.3																			0				breast(5)|endometrium(9)|kidney(2)|large_intestine(16)|lung(9)|ovary(3)|prostate(3)|skin(4)|stomach(1)	52						c.(1195-1197)Gtg>Ttg		myosin, heavy chain 10, non-muscle							90.0	82.0	85.0					17																	8449945		2203	4300	6503	SO:0001583	missense	4628				actin filament-based movement|axon guidance|cytokinesis after mitosis|regulation of cell shape	cell cortex|cleavage furrow|midbody|myosin complex|stress fiber	actin filament binding|actin-dependent ATPase activity|ADP binding|ATP binding|calmodulin binding|microfilament motor activity	g.chr17:8449945C>A	M69181	CCDS11144.1, CCDS58515.1, CCDS73984.1	17p13	2011-09-27	2006-09-29		ENSG00000133026	ENSG00000133026		"""Myosins / Myosin superfamily : Class II"""	7568	protein-coding gene	gene with protein product		160776	"""myosin, heavy polypeptide 10, non-muscle"""			1860190	Standard	NM_001256012		Approved	NMMHCB	uc002glm.4	P35580	OTTHUMG00000108195	ENST00000269243.4:c.1165G>T	17.37:g.8449945C>A	ENSP00000269243:p.Val389Leu					MYH10_ENST00000269243.4_Missense_Mutation_p.V389L|MYH10_ENST00000396239.1_Missense_Mutation_p.V389L|MYH10_ENST00000379980.4_Missense_Mutation_p.V405L	p.V399L	NM_001256012.1	NP_001242941.1	P35580	MYH10_HUMAN			12	1333	-			389			Myosin head-like.		B2RWP9|D3DTS1|F8VTL3|Q12989|Q149N3|Q149N4|Q16087|Q4LE45|Q6PK16|Q9BWG0	Missense_Mutation	SNP	ENST00000269243.4	37	c.1195G>T	CCDS11144.1	.	.	.	.	.	.	.	.	.	.	C	19.75	3.886574	0.72410	.	.	ENSG00000133026	ENST00000269243;ENST00000360416;ENST00000396239;ENST00000379980	D;D;D;D	0.87809	-2.3;-2.3;-2.3;-2.3	4.94	4.94	0.65067	Myosin head, motor domain (2);	0.059989	0.64402	D	0.000003	T	0.82226	0.4991	L	0.39566	1.225	0.58432	D	0.999999	B;B;B	0.30511	0.001;0.282;0.033	B;B;B	0.33750	0.007;0.169;0.03	T	0.79179	-0.1910	10	0.36615	T	0.2	.	12.1169	0.53870	0.0:0.9217:0.0:0.0783	.	398;399;389	B2RWP9;F8VTL3;P35580	.;.;MYH10_HUMAN	L	389;399;389;405	ENSP00000269243:V389L;ENSP00000353590:V399L;ENSP00000379539:V389L;ENSP00000369315:V405L	ENSP00000269243:V389L	V	-	1	0	MYH10	8390670	1.000000	0.71417	0.998000	0.56505	0.996000	0.88848	5.933000	0.70130	2.726000	0.93360	0.650000	0.86243	GTG		0.433	MYH10-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000227001.2			3	55	1	0	1	1	1	3	55				
PTPRK	5796	broad.mit.edu	37	6	128297888	128297888	+	Missense_Mutation	SNP	A	A	G			TCGA-HT-7608-01A-11D-2086-08	TCGA-HT-7608-10A-01D-2086-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	89a5c656-38cc-4852-ac49-3a7ca6d164a0	1284b1b6-b9f7-4ee6-9ae2-f7da19f9deb6	g.chr6:128297888A>G	ENST00000368215.3	-	27	3879	c.3880T>C	c.(3880-3882)Tat>Cat	p.Y1294H	PTPRK_ENST00000532331.1_Missense_Mutation_p.Y1317H|PTPRK_ENST00000368207.3_Missense_Mutation_p.Y1327H|PTPRK_ENST00000368210.3_Missense_Mutation_p.Y1313H|PTPRK_ENST00000368226.4_Missense_Mutation_p.Y1295H|PTPRK_ENST00000368227.3_Missense_Mutation_p.Y1312H|PTPRK_ENST00000368213.5_Missense_Mutation_p.Y1301H			Q15262	PTPRK_HUMAN	protein tyrosine phosphatase, receptor type, K	1294	Tyrosine-protein phosphatase 2. {ECO:0000255|PROSITE-ProRule:PRU00160}.				cell adhesion (GO:0007155)|cell migration (GO:0016477)|cellular response to reactive oxygen species (GO:0034614)|cellular response to UV (GO:0034644)|focal adhesion assembly (GO:0048041)|negative regulation of cell cycle (GO:0045786)|negative regulation of cell migration (GO:0030336)|negative regulation of cell proliferation (GO:0008285)|negative regulation of keratinocyte proliferation (GO:0010839)|negative regulation of transcription, DNA-templated (GO:0045892)|peptidyl-tyrosine dephosphorylation (GO:0035335)|protein dephosphorylation (GO:0006470)|protein localization to cell surface (GO:0034394)|signal transduction (GO:0007165)|transforming growth factor beta receptor signaling pathway (GO:0007179)	axon (GO:0030424)|cell surface (GO:0009986)|cell-cell junction (GO:0005911)|dendrite (GO:0030425)|integral component of membrane (GO:0016021)|integral component of plasma membrane (GO:0005887)|leading edge membrane (GO:0031256)|neuronal cell body (GO:0043025)|photoreceptor outer segment (GO:0001750)	beta-catenin binding (GO:0008013)|gamma-catenin binding (GO:0045295)|protein kinase binding (GO:0019901)|protein tyrosine phosphatase activity (GO:0004725)|transmembrane receptor protein tyrosine phosphatase activity (GO:0005001)		PTPRK/RSPO3(10)	autonomic_ganglia(1)|breast(1)|central_nervous_system(1)|cervix(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(7)|large_intestine(14)|lung(24)|ovary(3)|pancreas(1)|skin(6)|upper_aerodigestive_tract(3)|urinary_tract(1)	72				all cancers(137;0.0118)|GBM - Glioblastoma multiforme(226;0.0372)|OV - Ovarian serous cystadenocarcinoma(136;0.24)		ATGGGGCCATATCGTAGCATC	0.398																																						ENST00000368227.3																		PTPRK/RSPO3(10)	0				autonomic_ganglia(1)|breast(1)|central_nervous_system(1)|cervix(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(7)|large_intestine(14)|lung(24)|ovary(3)|pancreas(1)|skin(6)|upper_aerodigestive_tract(3)|urinary_tract(1)	72						c.(3934-3936)Tat>Cat		protein tyrosine phosphatase, receptor type, K							94.0	82.0	86.0					6																	128297888		2203	4300	6503	SO:0001583	missense	5796				cell migration|cellular response to reactive oxygen species|cellular response to UV|focal adhesion assembly|negative regulation of cell cycle|negative regulation of cell migration|negative regulation of keratinocyte proliferation|negative regulation of transcription, DNA-dependent|protein localization at cell surface|transforming growth factor beta receptor signaling pathway	adherens junction|cell surface|cell-cell junction|integral to plasma membrane|leading edge membrane	beta-catenin binding|gamma-catenin binding|protein kinase binding|transmembrane receptor protein tyrosine phosphatase activity	g.chr6:128297888A>G	L77886	CCDS5137.1, CCDS47473.1, CCDS75517.1	6q22.2-q22.3	2013-02-11			ENSG00000152894	ENSG00000152894		"""Protein tyrosine phosphatases / Class I Cys-based PTPs : Transmembrane receptor-like"", ""Immunoglobulin superfamily / Immunoglobulin-like domain containing"", ""Fibronectin type III domain containing"""	9674	protein-coding gene	gene with protein product		602545				9047348, 8663237	Standard	NM_002844		Approved	R-PTP-kappa	uc010kfc.3	Q15262	OTTHUMG00000015536	ENST00000368215.3:c.3880T>C	6.37:g.128297888A>G	ENSP00000357198:p.Tyr1294His					PTPRK_ENST00000368207.3_Missense_Mutation_p.Y1327H|PTPRK_ENST00000368213.5_Missense_Mutation_p.Y1301H|PTPRK_ENST00000368210.3_Missense_Mutation_p.Y1313H|PTPRK_ENST00000532331.1_Missense_Mutation_p.Y1317H|PTPRK_ENST00000368226.4_Missense_Mutation_p.Y1295H|PTPRK_ENST00000368215.3_Missense_Mutation_p.Y1294H	p.Y1312H			Q15262	PTPRK_HUMAN		all cancers(137;0.0118)|GBM - Glioblastoma multiforme(226;0.0372)|OV - Ovarian serous cystadenocarcinoma(136;0.24)	28	4300	-			1294			Tyrosine-protein phosphatase 2.		B2RTQ8|B7ZMG0|Q14763|Q5TG10|Q5TG11	Missense_Mutation	SNP	ENST00000368215.3	37	c.3934T>C		.	.	.	.	.	.	.	.	.	.	A	18.78	3.697606	0.68386	.	.	ENSG00000152894	ENST00000368226;ENST00000368227;ENST00000532331;ENST00000368213;ENST00000368210;ENST00000368215;ENST00000368207	T;T;T;T;T;T;T	0.16324	2.35;2.35;2.35;2.35;2.35;2.35;2.35	5.56	5.56	0.83823	Protein-tyrosine phosphatase, receptor/non-receptor type (3);	0.000000	0.85682	D	0.000000	T	0.29524	0.0736	L	0.58925	1.835	0.80722	D	1	D;D;D;D	0.89917	1.0;1.0;0.998;0.997	D;D;D;D	0.83275	0.996;0.993;0.987;0.978	T	0.01630	-1.1308	10	0.48119	T	0.1	.	15.9985	0.80270	1.0:0.0:0.0:0.0	.	1317;1301;1294;1295	B7ZMG0;Q15262-3;Q15262;Q15262-2	.;.;PTPRK_HUMAN;.	H	1295;1312;1317;1301;1313;1294;1327	ENSP00000357209:Y1295H;ENSP00000357210:Y1312H;ENSP00000432973:Y1317H;ENSP00000357196:Y1301H;ENSP00000357193:Y1313H;ENSP00000357198:Y1294H;ENSP00000357190:Y1327H	ENSP00000357190:Y1327H	Y	-	1	0	PTPRK	128339581	1.000000	0.71417	0.981000	0.43875	0.994000	0.84299	7.526000	0.81920	2.237000	0.73441	0.533000	0.62120	TAT		0.398	PTPRK-005	KNOWN	basic|appris_candidate	protein_coding	protein_coding	OTTHUMT00000042163.1			3	63	0	0	0	1	0	3	63				
RIPK4	54101	broad.mit.edu	37	21	43161859	43161859	+	Silent	SNP	G	G	A			TCGA-HT-7608-01A-11D-2086-08	TCGA-HT-7608-10A-01D-2086-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	89a5c656-38cc-4852-ac49-3a7ca6d164a0	1284b1b6-b9f7-4ee6-9ae2-f7da19f9deb6	g.chr21:43161859G>A	ENST00000352483.2	-	9	1702	c.1638C>T	c.(1636-1638)aaC>aaT	p.N546N	AP001615.9_ENST00000423276.1_RNA|RIPK4_ENST00000542057.1_Silent_p.N435N|RIPK4_ENST00000332512.3_Silent_p.N498N|RIPK4_ENST00000544709.1_Silent_p.N435N			P57078	RIPK4_HUMAN	receptor-interacting serine-threonine kinase 4	546					morphogenesis of an epithelium (GO:0002009)|positive regulation of NF-kappaB transcription factor activity (GO:0051092)	cytoplasm (GO:0005737)|membrane (GO:0016020)|nucleus (GO:0005634)	ATP binding (GO:0005524)|protein serine/threonine kinase activity (GO:0004674)			NS(1)|central_nervous_system(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(6)|lung(13)|ovary(2)|pancreas(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	34						CATCCTTGGCGTTGACACTGA	0.632																																						ENST00000352483.2																			0				NS(1)|central_nervous_system(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(6)|lung(13)|ovary(2)|pancreas(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	34						c.(1636-1638)aaC>aaT		receptor-interacting serine-threonine kinase 4							115.0	95.0	102.0					21																	43161859		2203	4300	6503	SO:0001819	synonymous_variant	54101					cytoplasm|nucleus	ATP binding|protein serine/threonine kinase activity	g.chr21:43161859G>A	AJ278016	CCDS13675.1	21q22.3	2013-01-10	2004-07-06	2004-07-06	ENSG00000183421	ENSG00000183421		"""Ankyrin repeat domain containing"""	496	protein-coding gene	gene with protein product	"""protein kinase C-associated kinase"", ""PKC-delta-interacting protein kinase"""	605706	"""ankyrin repeat domain 3"""	ANKRD3		10830953	Standard	NM_020639		Approved	DIK, ANKK2, RIP4, PKK	uc002yzn.1	P57078	OTTHUMG00000086770	ENST00000352483.2:c.1638C>T	21.37:g.43161859G>A						RIPK4_ENST00000332512.3_Silent_p.N498N|RIPK4_ENST00000544709.1_Silent_p.N435N|RIPK4_ENST00000542057.1_Silent_p.N435N	p.N546N			Q96T11	Q96T11_HUMAN			9	1702	-			498					Q96KH0	Silent	SNP	ENST00000352483.2	37	c.1638C>T																																																																																					0.632	RIPK4-201	KNOWN	basic	protein_coding	protein_coding		NM_020639		8	102	0	0	0	1	0	8	102				
AP1S1	1174	broad.mit.edu	37	7	100799992	100799992	+	Missense_Mutation	SNP	G	G	C			TCGA-HT-7608-01A-11D-2086-08	TCGA-HT-7608-10A-01D-2086-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	89a5c656-38cc-4852-ac49-3a7ca6d164a0	1284b1b6-b9f7-4ee6-9ae2-f7da19f9deb6	g.chr7:100799992G>C	ENST00000337619.5	+	2	239	c.121G>C	c.(121-123)Gct>Cct	p.A41P	MIR4653_ENST00000585107.1_RNA	NM_001283.3	NP_001274.1	P61966	AP1S1_HUMAN	adaptor-related protein complex 1, sigma 1 subunit	41					antigen processing and presentation of exogenous peptide antigen via MHC class II (GO:0019886)|intracellular protein transport (GO:0006886)|membrane organization (GO:0061024)|post-Golgi vesicle-mediated transport (GO:0006892)|receptor-mediated endocytosis (GO:0006898)|regulation of defense response to virus by virus (GO:0050690)|response to virus (GO:0009615)|viral process (GO:0016032)	AP-1 adaptor complex (GO:0030121)|coated pit (GO:0005905)|cytoplasmic vesicle membrane (GO:0030659)|cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|Golgi membrane (GO:0000139)|lysosomal membrane (GO:0005765)|membrane (GO:0016020)|trans-Golgi network membrane (GO:0032588)	protein transporter activity (GO:0008565)			breast(1)|endometrium(3)|kidney(1)|large_intestine(1)|lung(2)	8	Lung NSC(181;0.168)|all_lung(186;0.215)					GGTTGTCCTGGCTCGAAAGCC	0.537																																						ENST00000337619.5																			0				breast(1)|endometrium(3)|kidney(1)|large_intestine(1)|lung(2)	8						c.(121-123)Gct>Cct		adaptor-related protein complex 1, sigma 1 subunit							45.0	50.0	48.0					7																	100799992		2045	4182	6227	SO:0001583	missense	1174				intracellular protein transport|post-Golgi vesicle-mediated transport|receptor-mediated endocytosis|regulation of defense response to virus by virus|response to virus|viral reproduction	AP-1 adaptor complex|coated pit|cytosol|lysosomal membrane	protein binding|protein transporter activity	g.chr7:100799992G>C	AB015319	CCDS47669.1	7q22.1	2014-02-04			ENSG00000106367	ENSG00000106367			559	protein-coding gene	gene with protein product	"""clathrin-associated/assembly/adaptor protein, small 1 (19kD)"", ""clathrin coat assembly protein AP19"", ""sigma1A subunit of AP-1 clathrin adaptor complex"", ""AP-1 complex subunit sigma-1A"", ""sigma1A-adaptin"", ""golgi adaptor HA1/AP1 adaptin sigma-1A subunit"", ""clathrin assembly protein complex 1 sigma-1A small chain"", ""HA1 19 kDa subunit"""	603531	"""erythrokeratodermia variabilis 3 (Kamouraska type)"""	CLAPS1, EKV3		9653655, 9733768, 19057675	Standard	NM_001283		Approved	AP19, SIGMA1A, WUGSC:H_DJ0747G18.2	uc003uxv.4	P61966	OTTHUMG00000157103	ENST00000337619.5:c.121G>C	7.37:g.100799992G>C	ENSP00000336666:p.Ala41Pro						p.A41P	NM_001283.3	NP_001274.1	P61966	AP1S1_HUMAN			2	239	+	Lung NSC(181;0.168)|all_lung(186;0.215)		41					B2R5D8|P82267|Q00382|Q53YA7|Q9BTN4|Q9UDW9	Missense_Mutation	SNP	ENST00000337619.5	37	c.121G>C	CCDS47669.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	G|G	18.21|18.21	3.573490|3.573490	0.65765|0.65765	.|.	.|.	ENSG00000106367|ENSG00000106367	ENST00000337619|ENST00000429457	.|.	.|.	.|.	5.84|5.84	4.95|4.95	0.65309|0.65309	Longin-like (1);AP complex, mu/sigma subunit (1);|.	0.000000|.	0.85682|.	D|.	0.000000|.	T|T	0.70202|0.70202	0.3197|0.3197	M|M	0.64260|0.64260	1.97|1.97	0.80722|0.80722	D|D	1|1	B|.	0.15930|.	0.015|.	B|.	0.19666|.	0.026|.	T|T	0.69510|0.69510	-0.5126|-0.5126	9|5	0.33141|.	T|.	0.24|.	-3.6843|-3.6843	14.1441|14.1441	0.65339|0.65339	0.0:0.0:0.8489:0.1511|0.0:0.0:0.8489:0.1511	.|.	41|.	P61966|.	AP1S1_HUMAN|.	P|C	41|82	.|.	ENSP00000336666:A41P|.	A|W	+|+	1|3	0|0	AP1S1|AP1S1	100586712|100586712	1.000000|1.000000	0.71417|0.71417	1.000000|1.000000	0.80357|0.80357	0.989000|0.989000	0.77384|0.77384	7.379000|7.379000	0.79691|0.79691	1.453000|1.453000	0.47775|0.47775	0.561000|0.561000	0.74099|0.74099	GCT|TGG		0.537	AP1S1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000347439.1	NM_001283		4	17	0	0	0	1	0	4	17				
IDH1	3417	broad.mit.edu	37	2	209113112	209113112	+	Missense_Mutation	SNP	C	C	T	rs121913500		TCGA-HT-7608-01A-11D-2086-08	TCGA-HT-7608-10A-01D-2086-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	89a5c656-38cc-4852-ac49-3a7ca6d164a0	1284b1b6-b9f7-4ee6-9ae2-f7da19f9deb6	g.chr2:209113112C>T	ENST00000415913.1	-	4	776	c.395G>A	c.(394-396)cGt>cAt	p.R132H	IDH1_ENST00000345146.2_Missense_Mutation_p.R132H|IDH1_ENST00000446179.1_Missense_Mutation_p.R132H	NM_001282387.1	NP_001269316.1	O75874	IDHC_HUMAN	isocitrate dehydrogenase 1 (NADP+), soluble	132			R -> C (in colorectal cancer and glioma samples; glioblastoma multiforme; somatic mutation; abolishes magnesium binding and alters enzyme activity so that isocitrate is no longer converted to alpha- ketoglutarate but instead alpha- ketoglutarate is converted to R(-)-2- hydroxyglutarate). {ECO:0000269|PubMed:16959974, ECO:0000269|PubMed:19117336}.|R -> G (in a glioma sample; glioblastoma multiforme; somatic mutation). {ECO:0000269|PubMed:19117336}.|R -> H (in a glioma sample; glioblastoma multiforme; somatic mutation; abolishes magnesium binding and alters enzyme activity so that isocitrate is no longer converted to alpha-ketoglutarate but instead alpha-ketoglutarate is converted to R(-)-2-hydroxyglutarate). {ECO:0000269|PubMed:18772396}.|R -> L (in a glioma sample; glioblastoma multiforme; somatic mutation; abolishes magnesium binding and alters enzyme activity so that isocitrate is no longer converted to alpha-ketoglutarate but instead alpha-ketoglutarate is converted to R(-)-2-hydroxyglutarate). {ECO:0000269|PubMed:19117336}.|R -> S (in a glioma sample; glioblastoma multiforme; somatic mutation; abolishes magnesium binding and alters enzyme activity so that isocitrate is no longer converted to alpha-ketoglutarate but instead alpha-ketoglutarate is converted to R(-)-2-hydroxyglutarate). {ECO:0000269|PubMed:18772396}.		2-oxoglutarate metabolic process (GO:0006103)|cellular lipid metabolic process (GO:0044255)|female gonad development (GO:0008585)|glutathione metabolic process (GO:0006749)|glyoxylate cycle (GO:0006097)|isocitrate metabolic process (GO:0006102)|NADPH regeneration (GO:0006740)|response to oxidative stress (GO:0006979)|response to steroid hormone (GO:0048545)|small molecule metabolic process (GO:0044281)|tricarboxylic acid cycle (GO:0006099)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|mitochondrion (GO:0005739)|peroxisomal matrix (GO:0005782)|peroxisome (GO:0005777)	isocitrate dehydrogenase (NADP+) activity (GO:0004450)|magnesium ion binding (GO:0000287)|NAD binding (GO:0051287)|NADP binding (GO:0050661)|protein homodimerization activity (GO:0042803)|receptor binding (GO:0005102)	p.R132H(2774)|p.R132L(59)|p.R132V(1)|p.G131_R132>VL(1)		NS(1)|autonomic_ganglia(2)|biliary_tract(24)|bone(237)|central_nervous_system(3764)|endometrium(3)|haematopoietic_and_lymphoid_tissue(794)|kidney(2)|large_intestine(7)|lung(7)|prostate(6)|skin(5)|soft_tissue(12)|thyroid(22)|urinary_tract(1)	4887				Epithelial(149;0.0322)|LUSC - Lung squamous cell carcinoma(261;0.0711)|Lung(261;0.136)		ATAAGCATGACGACCTATGAT	0.393			Mis		gliobastoma																																Pancreas(158;264 1958 3300 35450 36047)	ENST00000415913.1				Dom	yes		2	2q33.3	3417	Mis	"""isocitrate dehydrogenase 1 (NADP+), soluble"""			O			gliobastoma		2835	Substitution - Missense(2834)|Complex - compound substitution(1)	p.R132H(2774)|p.R132L(59)|p.R132V(1)|p.G131_R132>VL(1)	central_nervous_system(2579)|haematopoietic_and_lymphoid_tissue(205)|bone(43)|prostate(4)|biliary_tract(2)|urinary_tract(1)|skin(1)	NS(1)|autonomic_ganglia(2)|biliary_tract(24)|bone(237)|central_nervous_system(3764)|endometrium(3)|haematopoietic_and_lymphoid_tissue(794)|kidney(2)|large_intestine(7)|lung(7)|prostate(6)|skin(5)|soft_tissue(12)|thyroid(22)|urinary_tract(1)	4887						c.(394-396)cGt>cAt		isocitrate dehydrogenase 1 (NADP+), soluble							79.0	73.0	75.0					2																	209113112		2203	4300	6503	SO:0001583	missense	3417				2-oxoglutarate metabolic process|cellular lipid metabolic process|glyoxylate cycle|isocitrate metabolic process|NADPH regeneration|tricarboxylic acid cycle	cytosol|peroxisomal matrix	isocitrate dehydrogenase (NADP+) activity|magnesium ion binding|NAD binding|protein homodimerization activity	g.chr2:209113112C>T		CCDS2381.1	2q34	2014-09-17			ENSG00000138413	ENSG00000138413	1.1.1.42		5382	protein-coding gene	gene with protein product		147700					Standard	NM_005896		Approved		uc002vcu.3	O75874	OTTHUMG00000132943	ENST00000415913.1:c.395G>A	2.37:g.209113112C>T	ENSP00000390265:p.Arg132His					IDH1_ENST00000446179.1_Missense_Mutation_p.R132H|IDH1_ENST00000345146.2_Missense_Mutation_p.R132H	p.R132H			O75874	IDHC_HUMAN		Epithelial(149;0.0322)|LUSC - Lung squamous cell carcinoma(261;0.0711)|Lung(261;0.136)	4	776	-			132		R -> C (in colorectal cancer and glioma samples; glioblastoma multiforme; somatic mutation; abolishes magnesium binding and alters enzyme activity so that isocitrate is no longer converted to alpha- ketoglutarate but instead alpha- ketoglutarate is converted to R(-)-2- hydroxyglutarate).|R -> G (in a glioma sample; glioblastoma multiforme; somatic mutation).|R -> H (in a glioma sample; glioblastoma multiforme; somatic mutation; abolishes magnesium binding and alters enzyme activity so that isocitrate is no longer converted to alpha-ketoglutarate but instead alpha-ketoglutarate is converted to R(-)-2-hydroxyglutarate).|R -> L (in a glioma sample; glioblastoma multiforme; somatic mutation; abolishes magnesium binding and alters enzyme activity so that isocitrate is no longer converted to alpha-ketoglutarate but instead alpha-ketoglutarate is converted to R(-)-2-hydroxyglutarate).|R -> S (in a glioma sample; glioblastoma multiforme; somatic mutation; abolishes magnesium binding and alters enzyme activity so that isocitrate is no longer converted to alpha-ketoglutarate but instead alpha-ketoglutarate is converted to R(-)-2-hydroxyglutarate).			Q567U4|Q6FHQ6|Q7Z3V0|Q93090|Q9NTJ9|Q9UKW8	Missense_Mutation	SNP	ENST00000415913.1	37	c.395G>A	CCDS2381.1	.	.	.	.	.	.	.	.	.	.	C	25.6	4.657324	0.88154	.	.	ENSG00000138413	ENST00000345146;ENST00000446179;ENST00000415913;ENST00000415282	D;D;D;D	0.86956	-2.19;-2.19;-2.19;-2.19	5.57	4.69	0.59074	Isopropylmalate dehydrogenase-like domain (2);	0.000000	0.85682	D	0.000000	D	0.93145	0.7817	H	0.99379	4.54	0.80722	D	1	B	0.25486	0.127	B	0.25405	0.06	D	0.92324	0.5868	10	0.87932	D	0	-20.0399	14.3783	0.66895	0.0:0.9288:0.0:0.0712	.	132	O75874	IDHC_HUMAN	H	132	ENSP00000260985:R132H;ENSP00000410513:R132H;ENSP00000390265:R132H;ENSP00000391075:R132H	ENSP00000260985:R132H	R	-	2	0	IDH1	208821357	1.000000	0.71417	0.997000	0.53966	0.992000	0.81027	6.088000	0.71371	1.356000	0.45884	0.555000	0.69702	CGT		0.393	IDH1-006	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000336672.1			30	60	0	0	0	1	0	30	60				
PRPF40B	25766	broad.mit.edu	37	12	50036431	50036431	+	Silent	SNP	C	C	G			TCGA-HT-7608-01A-11D-2086-08	TCGA-HT-7608-10A-01D-2086-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	89a5c656-38cc-4852-ac49-3a7ca6d164a0	1284b1b6-b9f7-4ee6-9ae2-f7da19f9deb6	g.chr12:50036431C>G	ENST00000380281.1	+	20	2089	c.2025C>G	c.(2023-2025)ctC>ctG	p.L675L	PRPF40B_ENST00000548825.2_Silent_p.L697L|FMNL3_ENST00000335154.5_3'UTR|PRPF40B_ENST00000261897.1_Silent_p.L662L			Q6NWY9	PR40B_HUMAN	PRP40 pre-mRNA processing factor 40 homolog B (S. cerevisiae)	675	FF 6.				mRNA processing (GO:0006397)|RNA splicing (GO:0008380)	nucleus (GO:0005634)				breast(1)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(6)|lung(11)|ovary(1)|pancreas(1)|prostate(1)|skin(4)|upper_aerodigestive_tract(1)	34						GGATCCGGCTCTTCCGGGAGT	0.557																																						ENST00000261897.1																			0				breast(1)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(6)|lung(11)|ovary(1)|pancreas(1)|prostate(1)|skin(4)|upper_aerodigestive_tract(1)	34						c.(1984-1986)ctC>ctG		PRP40 pre-mRNA processing factor 40 homolog B (S. cerevisiae)							89.0	78.0	81.0					12																	50036431		2203	4300	6503	SO:0001819	synonymous_variant	25766				mRNA processing|RNA splicing	nuclear speck		g.chr12:50036431C>G	AF049525	CCDS31796.1, CCDS31796.2	12q13.12	2014-09-17	2006-04-04			ENSG00000110844			25031	protein-coding gene	gene with protein product	"""Huntingtin interacting protein C"""		"""PRP40 pre-mRNA processing factor 40 homolog B (yeast)"""			9700202	Standard	NM_001031698		Approved	HYPC	uc001rus.2	Q6NWY9		ENST00000380281.1:c.2025C>G	12.37:g.50036431C>G						PRPF40B_ENST00000380281.1_Silent_p.L675L|FMNL3_ENST00000335154.5_3'UTR|PRPF40B_ENST00000548825.2_Silent_p.L697L	p.L662L			Q6NWY9	PR40B_HUMAN			20	2537	+			675					O75401|Q6PI09|Q6ZWB3|Q8NCZ1|Q9H5G4|Q9NT95	Silent	SNP	ENST00000380281.1	37	c.1986C>G																																																																																					0.557	PRPF40B-001	KNOWN	basic	protein_coding	protein_coding	OTTHUMT00000404838.1	NM_012272		25	24	0	0	0	1	0	25	24				
RASD2	23551	broad.mit.edu	37	22	35947956	35947956	+	Silent	SNP	C	C	T	rs144245051		TCGA-HT-7608-01A-11D-2086-08	TCGA-HT-7608-10A-01D-2086-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	89a5c656-38cc-4852-ac49-3a7ca6d164a0	1284b1b6-b9f7-4ee6-9ae2-f7da19f9deb6	g.chr22:35947956C>T	ENST00000216127.4	+	3	1320	c.678C>T	c.(676-678)gaC>gaT	p.D226D		NM_014310.3	NP_055125.2	Q96D21	RHES_HUMAN	RASD family, member 2	226	Interaction with GNB1, GNB2 and GNB3.				locomotory behavior (GO:0007626)|negative regulation of protein ubiquitination (GO:0031397)|positive regulation of protein kinase B signaling (GO:0051897)|positive regulation of protein sumoylation (GO:0033235)|regulation of cAMP-mediated signaling (GO:0043949)|small GTPase mediated signal transduction (GO:0007264)|synaptic transmission, dopaminergic (GO:0001963)	plasma membrane (GO:0005886)	G-protein beta-subunit binding (GO:0031681)|GTP binding (GO:0005525)|GTPase activity (GO:0003924)	p.D226D(1)		endometrium(2)|large_intestine(1)|lung(8)|prostate(1)|skin(1)	13						AGGAGATGGACGCCTATGGCA	0.642																																						ENST00000216127.4																			1	Substitution - coding silent(1)	p.D226D(1)	prostate(1)	endometrium(2)|large_intestine(1)|lung(8)|prostate(1)|skin(1)	13						c.(676-678)gaC>gaT		RASD family, member 2		C		1,4405	2.1+/-5.4	0,1,2202	89.0	74.0	79.0		678	-0.2	0.8	22	dbSNP_134	79	0,8600		0,0,4300	no	coding-synonymous	RASD2	NM_014310.3		0,1,6502	TT,TC,CC		0.0,0.0227,0.0077		226/267	35947956	1,13005	2203	4300	6503	SO:0001819	synonymous_variant	23551				locomotory behavior|positive regulation of protein kinase B signaling cascade|positive regulation of protein sumoylation|regulation of cAMP-mediated signaling	intracellular|plasma membrane	G-protein beta-subunit binding|GTP binding|GTPase activity	g.chr22:35947956C>T	AF279143	CCDS13916.1	22q13.1	2014-05-09			ENSG00000100302	ENSG00000100302			18229	protein-coding gene	gene with protein product	"""tumor endothelial marker 2"", ""Ras homolog enriched in striatum"""	612842				10947988, 10467249, 14724584	Standard	NM_014310		Approved	TEM2, Rhes, MGC:4834	uc003anx.3	Q96D21	OTTHUMG00000150607	ENST00000216127.4:c.678C>T	22.37:g.35947956C>T							p.D226D	NM_014310.3	NP_055125.2	Q96D21	RHES_HUMAN			3	1320	+			226			Interaction with GNB1, GNB2 and GNB3.		O95520|Q5THY8	Silent	SNP	ENST00000216127.4	37	c.678C>T	CCDS13916.1																																																																																				0.642	RASD2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000319063.1	NM_014310		21	44	0	0	0	1	0	21	44				
KLHL25	64410	broad.mit.edu	37	15	86312652	86312652	+	Silent	SNP	G	G	A			TCGA-HT-7608-01A-11D-2086-08	TCGA-HT-7608-10A-01D-2086-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	89a5c656-38cc-4852-ac49-3a7ca6d164a0	1284b1b6-b9f7-4ee6-9ae2-f7da19f9deb6	g.chr15:86312652G>A	ENST00000337975.5	-	2	664	c.390C>T	c.(388-390)caC>caT	p.H130H	MIR1276_ENST00000408707.1_RNA|KLHL25_ENST00000559131.1_Intron|KLHL25_ENST00000536947.1_Silent_p.H130H	NM_022480.3	NP_071925.2	Q9H0H3	KLH25_HUMAN	kelch-like family member 25	130					protein ubiquitination (GO:0016567)|protein ubiquitination involved in ubiquitin-dependent protein catabolic process (GO:0042787)|regulation of translational initiation (GO:0006446)	Cul3-RING ubiquitin ligase complex (GO:0031463)|cytoplasm (GO:0005737)				breast(1)|central_nervous_system(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(4)|lung(7)|ovary(2)|prostate(1)|skin(1)|upper_aerodigestive_tract(2)	25						CCCGCACATCGTGGAACTGCA	0.622																																						ENST00000337975.5																			0				breast(1)|central_nervous_system(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(4)|lung(7)|ovary(2)|prostate(1)|skin(1)|upper_aerodigestive_tract(2)	25						c.(388-390)caC>caT		kelch-like family member 25							94.0	87.0	90.0					15																	86312652		2202	4299	6501	SO:0001819	synonymous_variant	64410					cytoplasm		g.chr15:86312652G>A		CCDS10339.1	15q25.3	2013-02-22	2013-02-22		ENSG00000183655	ENSG00000183655		"""Kelch-like"", ""BTB/POZ domain containing"""	25732	protein-coding gene	gene with protein product	"""ectodermal-neural cortex 2"""		"""kelch-like 25 (Drosophila)"""				Standard	XM_006720635		Approved	FLJ12587, ENC2, ENC-2	uc002bly.3	Q9H0H3	OTTHUMG00000148672	ENST00000337975.5:c.390C>T	15.37:g.86312652G>A						KLHL25_ENST00000536947.1_Silent_p.H130H|KLHL25_ENST00000559131.1_Intron	p.H130H	NM_022480.3	NP_071925.2	Q9H0H3	ENC2_HUMAN			2	664	-			130					B2RDH2|B3KRT7	Silent	SNP	ENST00000337975.5	37	c.390C>T	CCDS10339.1																																																																																				0.622	KLHL25-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000309023.1	NM_022480		10	53	0	0	0	1	0	10	53				
IL17F	112744	broad.mit.edu	37	6	52103580	52103580	+	Missense_Mutation	SNP	C	C	T	rs569473195		TCGA-HT-7608-01A-11D-2086-08	TCGA-HT-7608-10A-01D-2086-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	89a5c656-38cc-4852-ac49-3a7ca6d164a0	1284b1b6-b9f7-4ee6-9ae2-f7da19f9deb6	g.chr6:52103580C>T	ENST00000336123.4	-	2	309	c.202G>A	c.(202-204)Gtt>Att	p.V68I		NM_052872.3	NP_443104.1	Q96PD4	IL17F_HUMAN	interleukin 17F	68					cartilage development (GO:0051216)|cytokine biosynthetic process (GO:0042089)|inflammatory response (GO:0006954)|lymphotoxin A biosynthetic process (GO:0042109)|negative regulation of angiogenesis (GO:0016525)|positive regulation of cytokine production involved in inflammatory response (GO:1900017)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|proteoglycan metabolic process (GO:0006029)|regulation of granulocyte macrophage colony-stimulating factor biosynthetic process (GO:0045423)|regulation of interleukin-2 biosynthetic process (GO:0045076)|regulation of interleukin-6 biosynthetic process (GO:0045408)|regulation of interleukin-8 biosynthetic process (GO:0045414)|regulation of transforming growth factor beta receptor signaling pathway (GO:0017015)	extracellular region (GO:0005576)|extracellular space (GO:0005615)	cytokine activity (GO:0005125)|cytokine binding (GO:0019955)|protein homodimerization activity (GO:0042803)			NS(1)|endometrium(3)|large_intestine(2)|lung(7)|ovary(1)	14	Lung NSC(77;0.116)					GACATGGAAACGCGCTGGTTT	0.448													C|||	1	0.000199681	0.0	0.0	5008	,	,		19469	0.0		0.0	False		,,,				2504	0.001					ENST00000336123.4																			0				NS(1)|endometrium(3)|large_intestine(2)|lung(7)|ovary(1)	14						c.(202-204)Gtt>Att		interleukin 17F							84.0	84.0	84.0					6																	52103580		2203	4300	6503	SO:0001583	missense	112744				cartilage development|inflammatory response|lymphotoxin A biosynthetic process|negative regulation of angiogenesis|proteoglycan metabolic process|regulation of granulocyte macrophage colony-stimulating factor biosynthetic process|regulation of interleukin-2 biosynthetic process|regulation of interleukin-6 biosynthetic process|regulation of interleukin-8 biosynthetic process|regulation of transforming growth factor beta receptor signaling pathway	extracellular space	cytokine activity|cytokine binding|protein homodimerization activity	g.chr6:52103580C>T	AF384857	CCDS4938.1	6p12	2014-09-17			ENSG00000112116	ENSG00000112116		"""Interleukins and interleukin receptors"""	16404	protein-coding gene	gene with protein product		606496				11591732, 11591768	Standard	NM_052872		Approved	IL-17F, ML-1, ML1	uc003pam.1	Q96PD4	OTTHUMG00000014845	ENST00000336123.4:c.202G>A	6.37:g.52103580C>T	ENSP00000337432:p.Val68Ile						p.V68I	NM_052872.3	NP_443104.1	Q96PD4	IL17F_HUMAN			2	309	-	Lung NSC(77;0.116)		68					Q6NSI0|Q7Z6P4|Q96PI8|Q9NUE6	Missense_Mutation	SNP	ENST00000336123.4	37	c.202G>A	CCDS4938.1	.	.	.	.	.	.	.	.	.	.	C	9.773	1.173284	0.21704	.	.	ENSG00000112116	ENST00000336123	T	0.55760	0.5	5.76	-1.6	0.08426	.	1.435930	0.04059	N	0.306083	T	0.08935	0.0221	N	0.04508	-0.205	0.09310	N	1	B	0.12013	0.005	B	0.04013	0.001	T	0.08911	-1.0699	10	0.13470	T	0.59	-0.858	6.0271	0.19660	0.1256:0.5101:0.0:0.3643	.	68	Q96PD4	IL17F_HUMAN	I	68	ENSP00000337432:V68I	ENSP00000337432:V68I	V	-	1	0	IL17F	52211539	0.000000	0.05858	0.000000	0.03702	0.002000	0.02628	-2.096000	0.01349	-0.230000	0.09840	0.650000	0.86243	GTT		0.448	IL17F-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000040901.3	NM_052872		26	39	0	0	0	1	0	26	39				
TIGIT	201633	broad.mit.edu	37	3	114026861	114026861	+	Silent	SNP	A	A	G			TCGA-HT-7608-01A-11D-2086-08	TCGA-HT-7608-10A-01D-2086-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	89a5c656-38cc-4852-ac49-3a7ca6d164a0	1284b1b6-b9f7-4ee6-9ae2-f7da19f9deb6	g.chr3:114026861A>G	ENST00000486257.1	+	5	875	c.618A>G	c.(616-618)gcA>gcG	p.A206A	TIGIT_ENST00000496848.1_3'UTR|TIGIT_ENST00000383671.3_Silent_p.A206A|TIGIT_ENST00000481065.1_Silent_p.A273A			Q495A1	TIGIT_HUMAN	T cell immunoreceptor with Ig and ITIM domains	206					negative regulation of interleukin-12 production (GO:0032695)|negative regulation of T cell activation (GO:0050868)|positive regulation of interleukin-10 production (GO:0032733)	cell surface (GO:0009986)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	receptor binding (GO:0005102)			breast(1)|central_nervous_system(1)|cervix(1)|endometrium(2)|large_intestine(4)|lung(7)|prostate(1)	17						CAGAAGCTGCACCTGCTGGGC	0.572																																						ENST00000481065.1																			0				breast(1)|central_nervous_system(1)|cervix(1)|endometrium(2)|large_intestine(4)|lung(7)|prostate(1)	17						c.(817-819)gcA>gcG		T cell immunoreceptor with Ig and ITIM domains							98.0	95.0	96.0					3																	114026861		2203	4300	6503	SO:0001819	synonymous_variant	201633				negative regulation of interleukin-12 production|negative regulation of T cell activation|positive regulation of interleukin-10 production	cell surface|integral to membrane|plasma membrane	protein binding	g.chr3:114026861A>G	AK097192	CCDS2980.1	3q13.31	2013-01-11	2008-10-13	2008-10-13	ENSG00000181847	ENSG00000181847		"""Immunoglobulin superfamily / V-set domain containing"""	26838	protein-coding gene	gene with protein product		612859	"""V-set and immunoglobulin domain containing 9"", ""V-set and transmembrane domain containing 3"""	VSIG9, VSTM3		19011627	Standard	NM_173799		Approved	FLJ39873, DKFZp667A205	uc003ebg.2	Q495A1	OTTHUMG00000159331	ENST00000486257.1:c.618A>G	3.37:g.114026861A>G						TIGIT_ENST00000486257.1_Silent_p.A206A|TIGIT_ENST00000383671.3_Silent_p.A206A|TIGIT_ENST00000496848.1_3'UTR	p.A273A			Q495A1	TIGIT_HUMAN			5	3434	+			206					Q495A3|Q5JPD8|Q6MZS2|Q8N877	Silent	SNP	ENST00000486257.1	37	c.819A>G	CCDS2980.1																																																																																				0.572	TIGIT-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000354690.1	NM_173799		42	83	0	0	0	1	0	42	83				
ZNF709	163051	broad.mit.edu	37	19	12575498	12575498	+	Missense_Mutation	SNP	G	G	A			TCGA-HT-7608-01A-11D-2086-08	TCGA-HT-7608-10A-01D-2086-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	89a5c656-38cc-4852-ac49-3a7ca6d164a0	1284b1b6-b9f7-4ee6-9ae2-f7da19f9deb6	g.chr19:12575498G>A	ENST00000397732.3	-	4	1409	c.1238C>T	c.(1237-1239)aCt>aTt	p.T413I	ZNF709_ENST00000428311.1_Missense_Mutation_p.T413I|CTD-3105H18.18_ENST00000598753.1_Intron	NM_152601.3	NP_689814.1	Q8N972	ZN709_HUMAN	zinc finger protein 709	413					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)	p.T413I(2)		large_intestine(3)|upper_aerodigestive_tract(3)	6						TCCAGTGTGAGTTCTTTCATG	0.418																																					GBM(33;565 669 12371 29134 51667)	ENST00000397732.3																			2	Substitution - Missense(2)	p.T413I(2)	kidney(1)|skin(1)	large_intestine(3)|upper_aerodigestive_tract(3)	6						c.(1237-1239)aCt>aTt		zinc finger protein 709							106.0	111.0	109.0					19																	12575498		2202	4299	6501	SO:0001583	missense	163051				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding	g.chr19:12575498G>A	AK095600	CCDS42504.1	19p13.2	2013-01-08			ENSG00000242852	ENSG00000242852		"""Zinc fingers, C2H2-type"", ""-"""	20629	protein-coding gene	gene with protein product							Standard	NM_152601		Approved	FLJ38281	uc002mtv.4	Q8N972	OTTHUMG00000156406	ENST00000397732.3:c.1238C>T	19.37:g.12575498G>A	ENSP00000380840:p.Thr413Ile					ZNF709_ENST00000428311.1_Missense_Mutation_p.T413I|CTD-3105H18.18_ENST00000598753.1_Intron	p.T413I	NM_152601.3	NP_689814.1	Q8N972	ZN709_HUMAN			4	1409	-			413					A8K4E6	Missense_Mutation	SNP	ENST00000397732.3	37	c.1238C>T	CCDS42504.1	.	.	.	.	.	.	.	.	.	.	G	0.031	-1.333208	0.01298	.	.	ENSG00000242852;ENSG00000196826	ENST00000397732;ENST00000428311	T;T	0.06142	3.34;3.34	3.05	-3.79	0.04320	Zinc finger, C2H2-like (1);Zinc finger, C2H2 (3);Zinc finger, C2H2-type/integrase, DNA-binding (1);	0.000000	0.35067	N	0.003471	T	0.01976	0.0062	N	0.11000	0.08	0.09310	N	1	B	0.28258	0.205	B	0.25884	0.064	T	0.43814	-0.9368	10	0.02654	T	1	.	5.8441	0.18652	0.2644:0.3999:0.3357:0.0	.	413	Q8N972	ZN709_HUMAN	I	413	ENSP00000380840:T413I;ENSP00000404127:T413I	ENSP00000404127:T413I	T	-	2	0	ZNF709;CTD-2192J16.17	12436498	0.000000	0.05858	0.002000	0.10522	0.972000	0.66771	-2.485000	0.00979	-0.610000	0.05716	0.591000	0.81541	ACT		0.418	ZNF709-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000344088.1	NM_152601		5	138	0	0	0	1	0	5	138				
CCDC185	164127	broad.mit.edu	37	1	223567391	223567391	+	Missense_Mutation	SNP	C	C	T			TCGA-HT-7608-01A-11D-2086-08	TCGA-HT-7608-10A-01D-2086-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	89a5c656-38cc-4852-ac49-3a7ca6d164a0	1284b1b6-b9f7-4ee6-9ae2-f7da19f9deb6	g.chr1:223567391C>T	ENST00000366875.3	+	1	677	c.574C>T	c.(574-576)Cgg>Tgg	p.R192W		NM_152610.2	NP_689823.2	Q8N715	CC185_HUMAN		192										breast(4)|central_nervous_system(2)|endometrium(2)|kidney(2)|large_intestine(4)|lung(12)|skin(3)	29				GBM - Glioblastoma multiforme(131;0.0704)		TCCCTCGGAGCGGTCTTCTGT	0.597																																						ENST00000366875.3																			0				breast(4)|central_nervous_system(2)|endometrium(2)|kidney(2)|large_intestine(4)|lung(12)|skin(3)	29						c.(574-576)Cgg>Tgg		chromosome 1 open reading frame 65							67.0	70.0	69.0					1																	223567391		2203	4300	6503	SO:0001583	missense	164127							g.chr1:223567391C>T																												ENST00000366875.3:c.574C>T	1.37:g.223567391C>T	ENSP00000355840:p.Arg192Trp						p.R192W	NM_152610.2	NP_689823.2	Q8N715	CA065_HUMAN		GBM - Glioblastoma multiforme(131;0.0704)	1	677	+			192					Q8N746|Q8NA93	Missense_Mutation	SNP	ENST00000366875.3	37	c.574C>T	CCDS1537.1	.	.	.	.	.	.	.	.	.	.	C	15.37	2.813263	0.50527	.	.	ENSG00000178395	ENST00000366875	T	0.20598	2.06	4.71	2.42	0.29668	.	.	.	.	.	T	0.19005	0.0456	N	0.22421	0.69	0.09310	N	1	D	0.67145	0.996	P	0.52957	0.714	T	0.10177	-1.0641	9	0.87932	D	0	.	3.4688	0.07559	0.5791:0.2237:0.1972:0.0	.	192	Q8N715	CA065_HUMAN	W	192	ENSP00000355840:R192W	ENSP00000355840:R192W	R	+	1	2	C1orf65	221634014	0.996000	0.38824	0.280000	0.24747	0.082000	0.17680	1.737000	0.38197	0.647000	0.30713	-0.271000	0.10264	CGG		0.597	C1orf65-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000092718.1			53	71	0	0	0	1	0	53	71				
CCER1	196477	broad.mit.edu	37	12	91347873	91347873	+	Missense_Mutation	SNP	G	G	A			TCGA-HT-7608-01A-11D-2086-08	TCGA-HT-7608-10A-01D-2086-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	89a5c656-38cc-4852-ac49-3a7ca6d164a0	1284b1b6-b9f7-4ee6-9ae2-f7da19f9deb6	g.chr12:91347873G>A	ENST00000358859.2	-	1	1080	c.647C>T	c.(646-648)gCg>gTg	p.A216V	CCER1_ENST00000548187.1_Intron	NM_152638.2	NP_689851.1	Q8TC90	CCER1_HUMAN	coiled-coil glutamate-rich protein 1	216																	GGCCTTCTGCGCCCGCAGCGC	0.647																																						ENST00000358859.2																			0											c.(646-648)gCg>gTg		coiled-coil glutamate-rich protein 1							84.0	91.0	89.0					12																	91347873		2203	4300	6503	SO:0001583	missense	196477							g.chr12:91347873G>A	BC024183	CCDS9036.1	12q21.33	2012-05-30	2012-05-30	2012-05-30	ENSG00000197651	ENSG00000197651			28373	protein-coding gene	gene with protein product			"""chromosome 12 open reading frame 12"""	C12orf12		17967063	Standard	NM_152638		Approved	MGC26598	uc001tbj.3	Q8TC90	OTTHUMG00000170070	ENST00000358859.2:c.647C>T	12.37:g.91347873G>A	ENSP00000351727:p.Ala216Val					CCER1_ENST00000548187.1_Intron	p.A216V	NM_152638.2	NP_689851.1					1	1080	-								Q8TC47	Missense_Mutation	SNP	ENST00000358859.2	37	c.647C>T	CCDS9036.1	.	.	.	.	.	.	.	.	.	.	G	7.608	0.674112	0.14841	.	.	ENSG00000197651	ENST00000358859	T	0.35789	1.29	4.03	2.12	0.27331	.	0.264374	0.20117	N	0.098891	T	0.17408	0.0418	N	0.14661	0.345	0.26941	N	0.966244	B	0.26902	0.163	B	0.20384	0.029	T	0.13980	-1.0489	10	0.30078	T	0.28	-9.1982	5.8731	0.18814	0.1035:0.0:0.7079:0.1886	.	216	Q8TC90	CL012_HUMAN	V	216	ENSP00000351727:A216V	ENSP00000351727:A216V	A	-	2	0	C12orf12	89872004	0.001000	0.12720	0.950000	0.38849	0.015000	0.08874	0.278000	0.18753	0.312000	0.23038	-0.657000	0.03884	GCG		0.647	CCER1-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000407142.2	NM_152638		4	109	0	0	0	1	0	4	109				
LMNA	4000	broad.mit.edu	37	1	156104684	156104684	+	Missense_Mutation	SNP	A	A	G			TCGA-HT-7608-01A-11D-2086-08	TCGA-HT-7608-10A-01D-2086-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	89a5c656-38cc-4852-ac49-3a7ca6d164a0	1284b1b6-b9f7-4ee6-9ae2-f7da19f9deb6	g.chr1:156104684A>G	ENST00000368300.4	+	4	940	c.728A>G	c.(727-729)gAt>gGt	p.D243G	LMNA_ENST00000347559.2_Missense_Mutation_p.D243G|LMNA_ENST00000361308.4_Missense_Mutation_p.D243G|LMNA_ENST00000368299.3_Missense_Mutation_p.D243G|LMNA_ENST00000496738.1_3'UTR|LMNA_ENST00000368297.1_Missense_Mutation_p.D162G|LMNA_ENST00000473598.2_Missense_Mutation_p.D144G|LMNA_ENST00000448611.2_Missense_Mutation_p.D131G|LMNA_ENST00000392353.3_Missense_Mutation_p.D162G|LMNA_ENST00000368301.2_Missense_Mutation_p.D243G	NM_170707.3	NP_733821.1	P02545	LMNA_HUMAN	lamin A/C	243	Coil 2.|Rod.				activation of signaling protein activity involved in unfolded protein response (GO:0006987)|apoptotic process (GO:0006915)|cellular component disassembly involved in execution phase of apoptosis (GO:0006921)|cellular protein metabolic process (GO:0044267)|cellular response to hypoxia (GO:0071456)|endoplasmic reticulum unfolded protein response (GO:0030968)|establishment or maintenance of microtubule cytoskeleton polarity (GO:0030951)|mitotic cell cycle (GO:0000278)|mitotic nuclear envelope disassembly (GO:0007077)|mitotic nuclear envelope reassembly (GO:0007084)|muscle organ development (GO:0007517)|negative regulation of extrinsic apoptotic signaling pathway (GO:2001237)|negative regulation of release of cytochrome c from mitochondria (GO:0090201)|positive regulation of cell aging (GO:0090343)|protein localization to nucleus (GO:0034504)|regulation of cell migration (GO:0030334)|regulation of protein localization to nucleus (GO:1900180)|sterol regulatory element binding protein import into nucleus (GO:0035105)|ventricular cardiac muscle cell development (GO:0055015)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|intermediate filament (GO:0005882)|lamin filament (GO:0005638)|nuclear envelope (GO:0005635)|nuclear lamina (GO:0005652)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|perinuclear region of cytoplasm (GO:0048471)	structural molecule activity (GO:0005198)			NS(1)|endometrium(1)|kidney(1)|lung(3)|ovary(4)	10	Hepatocellular(266;0.158)					CGGCTGGCGGATGCGCTGCAG	0.582									Werner syndrome;Hutchinson-Gilford Progeria Syndrome																													ENST00000368300.4																			0				NS(1)|endometrium(1)|kidney(1)|lung(3)|ovary(4)	10						c.(727-729)gAt>gGt		lamin A/C							87.0	83.0	84.0					1																	156104684		2203	4300	6503	SO:0001583	missense	4000	Werner syndrome;Hutchinson-Gilford Progeria Syndrome	Familial Cancer Database	WS, Adult Progeria;HGPS, Progeria	cellular component disassembly involved in apoptosis|cellular response to hypoxia|establishment or maintenance of microtubule cytoskeleton polarity|muscle organ development|positive regulation of cell aging|regulation of apoptosis|regulation of cell migration	cytoplasm|lamin filament|nuclear envelope|perinuclear region of cytoplasm	protein binding|structural molecule activity	g.chr1:156104684A>G	BC014507	CCDS1129.1, CCDS1131.1, CCDS58038.1, CCDS72941.1, CCDS72942.1	1q22	2014-09-17			ENSG00000160789	ENSG00000160789		"""Intermediate filaments type V, lamins"""	6636	protein-coding gene	gene with protein product		150330	"""cardiomyopathy, dilated 1A (autosomal dominant)"", ""limb girdle muscular dystrophy 1B (autosomal dominant)"", ""progeria 1 (Hutchinson-Gilford type)"", ""lamin A/C-like 1"""	LMN1, CMD1A, LGMD1B, PRO1, LMNL1		8511676, 8838815, 12702809	Standard	NM_005572		Approved	HGPS	uc001fni.3	P02545	OTTHUMG00000013961	ENST00000368300.4:c.728A>G	1.37:g.156104684A>G	ENSP00000357283:p.Asp243Gly					LMNA_ENST00000392353.3_Missense_Mutation_p.D162G|LMNA_ENST00000368297.1_Missense_Mutation_p.D162G|LMNA_ENST00000368301.2_Missense_Mutation_p.D243G|LMNA_ENST00000473598.2_Missense_Mutation_p.D144G|LMNA_ENST00000496738.1_3'UTR|LMNA_ENST00000361308.4_Missense_Mutation_p.D243G|LMNA_ENST00000347559.2_Missense_Mutation_p.D243G|LMNA_ENST00000368299.3_Missense_Mutation_p.D243G|LMNA_ENST00000448611.2_Missense_Mutation_p.D131G	p.D243G	NM_170707.3	NP_733821.1	P02545	LMNA_HUMAN			4	940	+	Hepatocellular(266;0.158)		243			Coil 2.|Rod.		B4DI32|D3DVB0|D6RAQ3|E7EUI9|P02546|Q5I6Y4|Q5I6Y6|Q5TCJ2|Q5TCJ3|Q6UYC3|Q969I8|Q96JA2	Missense_Mutation	SNP	ENST00000368300.4	37	c.728A>G	CCDS1129.1	.	.	.	.	.	.	.	.	.	.	A	14.77	2.634620	0.47049	.	.	ENSG00000160789	ENST00000368301;ENST00000347559;ENST00000361308;ENST00000368300;ENST00000368299;ENST00000292302;ENST00000392355;ENST00000448611;ENST00000368297;ENST00000504687;ENST00000473598;ENST00000392353	D;D;D;D;D;D;D;D;D;D	0.88664	-2.41;-2.41;-2.41;-2.41;-2.41;-2.41;-2.41;-2.41;-2.41;-2.41	5.45	5.45	0.79879	Filament (1);	0.000000	0.56097	D	0.000022	T	0.81240	0.4781	L	0.39085	1.19	0.58432	D	0.999999	B;B;B;P;B;B;B	0.41188	0.016;0.099;0.018;0.741;0.099;0.003;0.08	B;B;B;B;B;B;B	0.43018	0.034;0.063;0.021;0.405;0.063;0.019;0.037	D	0.83972	0.0327	10	0.51188	T	0.08	.	13.45	0.61165	1.0:0.0:0.0:0.0	.	131;243;144;162;243;243;243	E7EUI9;Q6UYC3;D6RAQ3;Q5TCI8;P02545;P02545-3;P02545-2	.;.;.;.;LMNA_HUMAN;.;.	G	243;243;243;243;243;243;243;131;162;160;144;162	ENSP00000357284:D243G;ENSP00000292304:D243G;ENSP00000355292:D243G;ENSP00000357283:D243G;ENSP00000357282:D243G;ENSP00000395597:D131G;ENSP00000357280:D162G;ENSP00000426535:D160G;ENSP00000421821:D144G;ENSP00000376164:D162G	ENSP00000292302:D243G	D	+	2	0	LMNA	154371308	1.000000	0.71417	0.438000	0.26821	0.781000	0.44180	6.029000	0.70895	2.056000	0.61249	0.379000	0.24179	GAT		0.582	LMNA-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000039200.2	NM_170707		19	77	0	0	0	1	0	19	77				
TOP3B	8940	broad.mit.edu	37	22	22322990	22322990	+	Splice_Site	SNP	C	C	A			TCGA-HT-7608-01A-11D-2086-08	TCGA-HT-7608-10A-01D-2086-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	89a5c656-38cc-4852-ac49-3a7ca6d164a0	1284b1b6-b9f7-4ee6-9ae2-f7da19f9deb6	g.chr22:22322990C>A	ENST00000398793.2	-	7	1173		c.e7+1		TOP3B_ENST00000413067.2_Splice_Site|TOP3B_ENST00000357179.5_Splice_Site	NM_003935.3	NP_003926.1	O95985	TOP3B_HUMAN	topoisomerase (DNA) III beta						chromosome segregation (GO:0007059)|DNA topological change (GO:0006265)	condensed chromosome (GO:0000793)|nucleus (GO:0005634)	DNA binding (GO:0003677)|DNA topoisomerase activity (GO:0003916)|DNA topoisomerase type I activity (GO:0003917)|poly(A) RNA binding (GO:0044822)			breast(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(2)|kidney(5)|large_intestine(4)|lung(9)|ovary(1)	26	Colorectal(54;0.105)			READ - Rectum adenocarcinoma(21;0.145)		AGGCAAGGAACCTTGGCCTGC	0.552																																						ENST00000398793.2																			0				breast(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(2)|kidney(5)|large_intestine(4)|lung(9)|ovary(1)	26						c.e7+1		topoisomerase (DNA) III beta							113.0	111.0	112.0					22																	22322990		2203	4300	6503	SO:0001630	splice_region_variant	8940				DNA topological change	nucleus	ATP binding|DNA topoisomerase type I activity|protein binding	g.chr22:22322990C>A	AF017146	CCDS13797.1	22q11.22	2011-05-24			ENSG00000100038	ENSG00000100038			11993	protein-coding gene	gene with protein product		603582				9786842, 9074928	Standard	XM_005261811		Approved		uc002zvs.3	O95985	OTTHUMG00000167438	ENST00000398793.2:c.738+1G>T	22.37:g.22322990C>A						TOP3B_ENST00000413067.2_Splice_Site|TOP3B_ENST00000357179.5_Splice_Site		NM_003935.3	NP_003926.1	O95985	TOP3B_HUMAN		READ - Rectum adenocarcinoma(21;0.145)	7	1173	-	Colorectal(54;0.105)							A0M8Q3|Q9BUP5	Splice_Site	SNP	ENST00000398793.2	37		CCDS13797.1	.	.	.	.	.	.	.	.	.	.	C	22.1	4.245986	0.80024	.	.	ENSG00000100038	ENST00000357179;ENST00000457270;ENST00000398793	.	.	.	5.04	5.04	0.67666	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	18.5693	0.91129	0.0:1.0:0.0:0.0	.	.	.	.	.	-1	.	.	.	-	.	.	TOP3B	20652990	1.000000	0.71417	1.000000	0.80357	0.967000	0.64934	7.603000	0.82811	2.613000	0.88420	0.555000	0.69702	.		0.552	TOP3B-003	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000320251.1	NM_003935	Intron	19	58	1	0	5.26018e-13	1	5.64507e-13	19	58				
MUC13	56667	broad.mit.edu	37	3	124632003	124632003	+	Missense_Mutation	SNP	G	G	A	rs148368651		TCGA-HT-7608-01A-11D-2086-08	TCGA-HT-7608-10A-01D-2086-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	89a5c656-38cc-4852-ac49-3a7ca6d164a0	1284b1b6-b9f7-4ee6-9ae2-f7da19f9deb6	g.chr3:124632003G>A	ENST00000311075.3	-	8	1204	c.1166C>T	c.(1165-1167)gCg>gTg	p.A389V		NM_033049.3	NP_149038	Q9H3R2	MUC13_HUMAN	mucin 13, cell surface associated	390	EGF-like 3. {ECO:0000255|PROSITE- ProRule:PRU00076}.				cellular protein metabolic process (GO:0044267)|maintenance of gastrointestinal epithelium (GO:0030277)|O-glycan processing (GO:0016266)|post-translational protein modification (GO:0043687)	apical plasma membrane (GO:0016324)|cytosol (GO:0005829)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|Golgi lumen (GO:0005796)|integral component of membrane (GO:0016021)	protein homodimerization activity (GO:0042803)			breast(1)|central_nervous_system(1)|cervix(1)|kidney(1)|large_intestine(6)|lung(5)|prostate(1)|skin(1)|stomach(1)	18						GGGCACGCACGCACACTCAGG	0.478													G|||	1	0.000199681	0.0008	0.0	5008	,	,		18102	0.0		0.0	False		,,,				2504	0.0					ENST00000311075.3																			0				breast(1)|central_nervous_system(1)|cervix(1)|kidney(1)|large_intestine(6)|lung(5)|prostate(1)|skin(1)|stomach(1)	18						c.(1165-1167)gCg>gTg		mucin 13, cell surface associated		G	VAL/ALA	1,4405	2.1+/-5.4	0,1,2202	72.0	72.0	72.0		1166	-9.1	0.0	3	dbSNP_134	72	0,8600		0,0,4300	no	missense	MUC13	NM_033049.3	64	0,1,6502	AA,AG,GG		0.0,0.0227,0.0077	benign	389/512	124632003	1,13005	2203	4300	6503	SO:0001583	missense	56667					extracellular region|integral to membrane|plasma membrane		g.chr3:124632003G>A	AF286113		3q21.2	2007-01-17	2006-03-14		ENSG00000173702	ENSG00000173702		"""Mucins"""	7511	protein-coding gene	gene with protein product		612181	"""down-regulated in colon cancer 1"", ""mucin 13, epithelial transmembrane"""	DRCC1		11278439	Standard	NM_033049		Approved		uc003ehq.2	Q9H3R2	OTTHUMG00000159484	ENST00000311075.3:c.1166C>T	3.37:g.124632003G>A	ENSP00000312235:p.Ala389Val						p.A389V	NM_033049.3	NP_149038.3	Q9H3R2	MUC13_HUMAN			8	1204	-			389			EGF-like 3.		Q6UWD9|Q9NXT5	Missense_Mutation	SNP	ENST00000311075.3	37	c.1166C>T		1	4.578754578754579E-4	1	0.0020325203252032522	0	0.0	0	0.0	0	0.0	G	6.474	0.455677	0.12283	2.27E-4	0.0	ENSG00000173702	ENST00000311075	D	0.86956	-2.19	4.52	-9.05	0.00730	EGF-like region, conserved site (1);	1.818730	0.02756	N	0.118035	T	0.66406	0.2786	N	0.05441	-0.05	0.09310	N	1	B	0.12013	0.005	B	0.04013	0.001	T	0.59558	-0.7432	10	0.29301	T	0.29	0.3168	0.5017	0.00581	0.2112:0.2069:0.2843:0.2977	.	389	Q9H3R2	MUC13_HUMAN	V	389	ENSP00000312235:A389V	ENSP00000312235:A389V	A	-	2	0	MUC13	126114693	0.000000	0.05858	0.000000	0.03702	0.041000	0.13682	-1.788000	0.01763	-2.422000	0.00563	-0.448000	0.05591	GCG		0.478	MUC13-001	KNOWN	basic|appris_principal	protein_coding	protein_coding	OTTHUMT00000355714.1	NM_033049		3	54	0	0	0	1	0	3	54				
AXL	558	broad.mit.edu	37	19	41763470	41763470	+	Missense_Mutation	SNP	G	G	A			TCGA-HT-7608-01A-11D-2086-08	TCGA-HT-7608-10A-01D-2086-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	89a5c656-38cc-4852-ac49-3a7ca6d164a0	1284b1b6-b9f7-4ee6-9ae2-f7da19f9deb6	g.chr19:41763470G>A	ENST00000301178.4	+	19	2459	c.2269G>A	c.(2269-2271)Gag>Aag	p.E757K	AXL_ENST00000593513.1_Missense_Mutation_p.E489K|AXL_ENST00000359092.3_Missense_Mutation_p.E748K	NM_001278599.1|NM_021913.3	NP_001265528.1|NP_068713	P30530	UFO_HUMAN	AXL receptor tyrosine kinase	757	Protein kinase. {ECO:0000255|PROSITE- ProRule:PRU00159}.				apoptotic cell clearance (GO:0043277)|blood vessel remodeling (GO:0001974)|cell maturation (GO:0048469)|cellular response to extracellular stimulus (GO:0031668)|cellular response to hydrogen peroxide (GO:0070301)|cellular response to interferon-alpha (GO:0035457)|cellular response to lipopolysaccharide (GO:0071222)|dendritic cell differentiation (GO:0097028)|enzyme linked receptor protein signaling pathway (GO:0007167)|erythrocyte homeostasis (GO:0034101)|forebrain cell migration (GO:0021885)|inflammatory response (GO:0006954)|innate immune response (GO:0045087)|natural killer cell differentiation (GO:0001779)|negative regulation of dendritic cell apoptotic process (GO:2000669)|negative regulation of interferon-gamma production (GO:0032689)|negative regulation of lymphocyte activation (GO:0051250)|negative regulation of neuron apoptotic process (GO:0043524)|negative regulation of tumor necrosis factor production (GO:0032720)|neuron migration (GO:0001764)|organ regeneration (GO:0031100)|ovulation cycle (GO:0042698)|peptidyl-tyrosine phosphorylation (GO:0018108)|phagocytosis (GO:0006909)|platelet activation (GO:0030168)|positive regulation of cytokine-mediated signaling pathway (GO:0001961)|positive regulation of natural killer cell differentiation (GO:0032825)|positive regulation of protein kinase B signaling (GO:0051897)|protein kinase B signaling (GO:0043491)|secretion by cell (GO:0032940)|signal transduction (GO:0007165)|spermatogenesis (GO:0007283)|substrate adhesion-dependent cell spreading (GO:0034446)|vagina development (GO:0060068)	cell surface (GO:0009986)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|integral component of plasma membrane (GO:0005887)	ATP binding (GO:0005524)|phosphatidylserine binding (GO:0001786)|transmembrane receptor protein tyrosine kinase activity (GO:0004714)			breast(3)|central_nervous_system(1)|endometrium(6)|kidney(2)|large_intestine(9)|lung(12)|ovary(3)|pancreas(1)|prostate(4)|skin(3)|stomach(3)|upper_aerodigestive_tract(1)	48						GGAGAACAGCGAGATTTATGA	0.557																																						ENST00000301178.4																			0				breast(3)|central_nervous_system(1)|endometrium(6)|kidney(2)|large_intestine(9)|lung(12)|ovary(3)|pancreas(1)|prostate(4)|skin(3)|stomach(3)|upper_aerodigestive_tract(1)	48						c.(2269-2271)Gag>Aag		AXL receptor tyrosine kinase							143.0	129.0	134.0					19																	41763470		2203	4300	6503	SO:0001583	missense	558					integral to plasma membrane	ATP binding|transmembrane receptor protein tyrosine kinase activity	g.chr19:41763470G>A	M76125	CCDS12574.1, CCDS12575.1, CCDS62677.1	19q13.1	2013-02-11				ENSG00000167601	2.7.10.1	"""Immunoglobulin superfamily / V-set domain containing"", ""Immunoglobulin superfamily / Immunoglobulin-like domain containing"", ""Fibronectin type III domain containing"""	905	protein-coding gene	gene with protein product		109135				1656220	Standard	NM_021913		Approved	UFO, JTK11	uc010ehj.3	P30530		ENST00000301178.4:c.2269G>A	19.37:g.41763470G>A	ENSP00000301178:p.Glu757Lys					AXL_ENST00000359092.3_Missense_Mutation_p.E748K|AXL_ENST00000593513.1_Missense_Mutation_p.E489K	p.E757K	NM_001278599.1|NM_021913.3	NP_001265528.1|NP_068713.2	P30530	UFO_HUMAN			19	2459	+			757			Protein kinase.		Q8N5L2|Q9UD27	Missense_Mutation	SNP	ENST00000301178.4	37	c.2269G>A	CCDS12575.1	.	.	.	.	.	.	.	.	.	.	G	36	5.749904	0.96890	.	.	ENSG00000167601	ENST00000301178;ENST00000359092	D;D	0.83163	-1.69;-1.69	4.89	4.89	0.63831	Serine-threonine/tyrosine-protein kinase (1);Protein kinase-like domain (1);Tyrosine-protein kinase, catalytic domain (1);Protein kinase, catalytic domain (1);	0.000000	0.85682	D	0.000000	D	0.87896	0.6293	L	0.52206	1.635	0.49213	D	0.999761	D;D	0.89917	1.0;1.0	P;P	0.62740	0.849;0.906	D	0.88917	0.3363	10	0.87932	D	0	-27.8781	17.3451	0.87308	0.0:0.0:1.0:0.0	.	748;757	P30530-2;P30530	.;UFO_HUMAN	K	757;748	ENSP00000301178:E757K;ENSP00000351995:E748K	ENSP00000301178:E757K	E	+	1	0	AXL	46455310	1.000000	0.71417	0.997000	0.53966	0.989000	0.77384	9.478000	0.97927	2.706000	0.92434	0.650000	0.86243	GAG		0.557	AXL-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000463323.2			5	98	0	0	0	1	0	5	98				
GTF3C3	9330	broad.mit.edu	37	2	197657782	197657782	+	Silent	SNP	C	C	T			TCGA-HT-7608-01A-11D-2086-08	TCGA-HT-7608-10A-01D-2086-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	89a5c656-38cc-4852-ac49-3a7ca6d164a0	1284b1b6-b9f7-4ee6-9ae2-f7da19f9deb6	g.chr2:197657782C>T	ENST00000263956.3	-	3	398	c.309G>A	c.(307-309)gaG>gaA	p.E103E	GTF3C3_ENST00000470386.1_5'Flank|GTF3C3_ENST00000409364.3_Silent_p.E103E	NM_012086.4	NP_036218.1	Q9Y5Q9	TF3C3_HUMAN	general transcription factor IIIC, polypeptide 3, 102kDa	103	Glu-rich.				5S class rRNA transcription from RNA polymerase III type 1 promoter (GO:0042791)|gene expression (GO:0010467)|transcription from RNA polymerase III promoter (GO:0006383)|transcription, DNA-templated (GO:0006351)|tRNA transcription from RNA polymerase III promoter (GO:0042797)	nucleoplasm (GO:0005654)|transcription factor TFIIIC complex (GO:0000127)	DNA binding (GO:0003677)	p.E103E(1)		breast(4)|endometrium(3)|kidney(1)|large_intestine(9)|lung(5)|ovary(3)|pancreas(1)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(3)	33						cctcctcctcctcttcttcct	0.468																																						ENST00000263956.3																			1	Substitution - coding silent(1)	p.E103E(1)	endometrium(1)	breast(4)|endometrium(3)|kidney(1)|large_intestine(9)|lung(5)|ovary(3)|pancreas(1)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(3)	33						c.(307-309)gaG>gaA		general transcription factor IIIC, polypeptide 3, 102kDa							65.0	63.0	64.0					2																	197657782		2203	4300	6503	SO:0001819	synonymous_variant	9330					transcription factor TFIIIC complex	DNA binding|protein binding	g.chr2:197657782C>T	AF133123	CCDS2316.1, CCDS56153.1	2q33.1	2013-01-10	2002-08-29		ENSG00000119041	ENSG00000119041		"""General transcription factors"", ""Tetratricopeptide (TTC) repeat domain containing"""	4666	protein-coding gene	gene with protein product		604888	"""general transcription factor IIIC, polypeptide 3 (102kD)"""			10373544	Standard	NM_001206774		Approved	TFiiiC2-102, TFIIIC102	uc002uts.3	Q9Y5Q9	OTTHUMG00000154633	ENST00000263956.3:c.309G>A	2.37:g.197657782C>T						GTF3C3_ENST00000409364.3_Silent_p.E103E	p.E103E	NM_012086.4	NP_036218.1	Q9Y5Q9	TF3C3_HUMAN			3	398	-			103			Glu-rich.		Q4ZG48|Q86XJ8|Q8WX84|Q96B44|Q9H5I8|Q9NT97	Silent	SNP	ENST00000263956.3	37	c.309G>A	CCDS2316.1																																																																																				0.468	GTF3C3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000256104.1			3	40	0	0	0	1	0	3	40				
PRDM7	11105	broad.mit.edu	37	16	90126823	90126823	+	Missense_Mutation	SNP	T	T	G	rs376401117	byFrequency	TCGA-HT-7608-01A-11D-2086-08	TCGA-HT-7608-10A-01D-2086-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	89a5c656-38cc-4852-ac49-3a7ca6d164a0	1284b1b6-b9f7-4ee6-9ae2-f7da19f9deb6	g.chr16:90126823T>G	ENST00000449207.2	-	9	1178	c.1159A>C	c.(1159-1161)Atg>Ctg	p.M387L	PRDM7_ENST00000407825.1_Intron|PRDM7_ENST00000325921.6_Intron	NM_001098173.1	NP_001091643.1	Q9NQW5	PRDM7_HUMAN	PR domain containing 7	387					regulation of transcription, DNA-templated (GO:0006355)	chromosome (GO:0005694)|nucleus (GO:0005634)	histone-lysine N-methyltransferase activity (GO:0018024)|nucleic acid binding (GO:0003676)			lung(2)|ovary(2)|stomach(1)	5		all_cancers(9;4.44e-13)|Lung NSC(15;1.56e-06)|all_lung(18;2.18e-06)|all_neural(9;0.00118)|all_hematologic(23;0.0194)		BRCA - Breast invasive adenocarcinoma(80;0.0278)		CTCATCCCCATACCAGACCAG	0.522													.|||	3	0.000599042	0.0	0.0	5008	,	,		19711	0.002		0.0	False		,,,				2504	0.001					ENST00000449207.2																			0				lung(2)|ovary(2)|stomach(1)	5						c.(1159-1161)Atg>Ctg		PR domain containing 7		T	LEU/MET,	0,3874		0,0,1937	115.0	114.0	115.0		1159,	2.2	1.0	16		115	1,8265		0,1,4132	no	missense,intron	PRDM7	NM_001098173.1,NM_052996.2	15,	0,1,6069	GG,GT,TT		0.0121,0.0,0.0082	benign,	387/493,	90126823	1,12139	1937	4133	6070	SO:0001583	missense	11105					chromosome|nucleus	nucleic acid binding	g.chr16:90126823T>G	AF274347	CCDS45557.1	16q24.3	2013-01-09			ENSG00000126856	ENSG00000126856		"""Zinc fingers, C2H2-type"", ""-"""	9351	protein-coding gene	gene with protein product		609759				17916234	Standard	NM_001098173		Approved	ZNF910	uc010cje.3	Q9NQW5	OTTHUMG00000138990	ENST00000449207.2:c.1159A>C	16.37:g.90126823T>G	ENSP00000396732:p.Met387Leu					PRDM7_ENST00000325921.6_Intron|PRDM7_ENST00000407825.1_Intron	p.M387L	NM_001098173.1	NP_001091643.1	Q9NQW5	PRDM7_HUMAN		BRCA - Breast invasive adenocarcinoma(80;0.0278)	9	1178	-		all_cancers(9;4.44e-13)|Lung NSC(15;1.56e-06)|all_lung(18;2.18e-06)|all_neural(9;0.00118)|all_hematologic(23;0.0194)	387					A4Q9G8|Q08EM4|Q9NQW4	Missense_Mutation	SNP	ENST00000449207.2	37	c.1159A>C	CCDS45557.1	.	.	.	.	.	.	.	.	.	.	.	7.534	0.659380	0.14645	0.0	1.21E-4	ENSG00000126856	ENST00000449207	T	0.10960	2.82	2.22	2.22	0.28083	.	.	.	.	.	T	0.05364	0.0142	N	0.14661	0.345	0.80722	D	1	B	0.13594	0.008	B	0.04013	0.001	T	0.34700	-0.9818	8	.	.	.	-8.2214	6.7211	0.23330	0.0:0.0:0.0:1.0	.	387	Q9NQW5	PRDM7_HUMAN	L	387	ENSP00000396732:M387L	.	M	-	1	0	PRDM7	88654324	0.994000	0.37717	0.991000	0.47740	0.589000	0.36550	3.111000	0.50360	0.995000	0.38917	0.392000	0.25879	ATG		0.522	PRDM7-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000420560.1			5	124	0	0	0	1	0	5	124				
SLC34A2	10568	broad.mit.edu	37	4	25677957	25677957	+	Silent	SNP	G	G	A			TCGA-HT-7608-01A-11D-2086-08	TCGA-HT-7608-10A-01D-2086-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	89a5c656-38cc-4852-ac49-3a7ca6d164a0	1284b1b6-b9f7-4ee6-9ae2-f7da19f9deb6	g.chr4:25677957G>A	ENST00000382051.3	+	13	1709	c.1659G>A	c.(1657-1659)cgG>cgA	p.R553R	SLC34A2_ENST00000504570.1_Silent_p.R552R|SLC34A2_ENST00000503434.1_Silent_p.R552R	NM_001177998.1|NM_006424.2	NP_001171469.1|NP_006415	O95436	NPT2B_HUMAN	solute carrier family 34 (type II sodium/phosphate contransporter), member 2	553					aging (GO:0007568)|cellular phosphate ion homeostasis (GO:0030643)|in utero embryonic development (GO:0001701)|ion transport (GO:0006811)|phosphate ion transmembrane transport (GO:0035435)|phosphate ion transport (GO:0006817)|response to estradiol (GO:0032355)|response to estrogen (GO:0043627)|response to fructose (GO:0009750)|sodium ion transmembrane transport (GO:0035725)|transmembrane transport (GO:0055085)	apical plasma membrane (GO:0016324)|brush border membrane (GO:0031526)|integral component of membrane (GO:0016021)|integral component of plasma membrane (GO:0005887)|microvillus membrane (GO:0031528)|plasma membrane (GO:0005886)|vesicle (GO:0031982)	phosphate ion binding (GO:0042301)|sodium ion binding (GO:0031402)|sodium-dependent phosphate transmembrane transporter activity (GO:0015321)|sodium:phosphate symporter activity (GO:0005436)		SLC34A2/ROS1(14)	breast(1)|cervix(1)|endometrium(5)|kidney(1)|large_intestine(9)|lung(18)|ovary(1)|prostate(1)|skin(4)	41		Breast(46;0.0503)				CCGGCTGGCGGGTGCTGGTTG	0.597			T	ROS1	NSCLC																																	ENST00000382051.3				Dom	yes		4	4p15.2	10568	T	"""solute carrier family 34 (sodium phosphate), member 2"""			E	ROS1		NSCLC	SLC34A2/ROS1(14)	0				breast(1)|cervix(1)|endometrium(5)|kidney(1)|large_intestine(9)|lung(18)|ovary(1)|prostate(1)|skin(4)	41						c.(1657-1659)cgG>cgA		solute carrier family 34 (type II sodium/phosphate contransporter), member 2							117.0	113.0	114.0					4																	25677957		2203	4300	6503	SO:0001819	synonymous_variant	10568				cellular phosphate ion homeostasis	apical plasma membrane|brush border membrane|integral to plasma membrane	phosphate binding|sodium ion binding|sodium-dependent phosphate transmembrane transporter activity|sodium:phosphate symporter activity	g.chr4:25677957G>A	AF111856	CCDS3435.1, CCDS54750.1	4p15.2	2013-07-17	2013-07-17		ENSG00000157765	ENSG00000157765		"""Solute carriers"""	11020	protein-coding gene	gene with protein product		604217	"""solute carrier family 34 (sodium phosphate), member 2"""			10329428, 10610722	Standard	NM_006424		Approved	NAPI-3B	uc003grr.3	O95436	OTTHUMG00000097757	ENST00000382051.3:c.1659G>A	4.37:g.25677957G>A						SLC34A2_ENST00000504570.1_Silent_p.R552R|SLC34A2_ENST00000503434.1_Silent_p.R552R	p.R553R	NM_001177998.1|NM_006424.2	NP_001171469.1|NP_006415.2	O95436	NPT2B_HUMAN			13	1709	+		Breast(46;0.0503)	553					A5PL17|Q8N2K2|Q8WYA9|Q9P0V7	Silent	SNP	ENST00000382051.3	37	c.1659G>A	CCDS3435.1																																																																																				0.597	SLC34A2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000214990.1	NM_006424		6	145	0	0	0	1	0	6	145				
KCNK18	338567	broad.mit.edu	37	10	118957048	118957048	+	Silent	SNP	C	C	T			TCGA-HT-7608-01A-11D-2086-08	TCGA-HT-7608-10A-01D-2086-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	89a5c656-38cc-4852-ac49-3a7ca6d164a0	1284b1b6-b9f7-4ee6-9ae2-f7da19f9deb6	g.chr10:118957048C>T	ENST00000334549.1	+	1	49	c.49C>T	c.(49-51)Ctg>Ttg	p.L17L		NM_181840.1	NP_862823.1	Q7Z418	KCNKI_HUMAN	potassium channel, subfamily K, member 18	17					cellular response to pH (GO:0071467)|potassium ion export (GO:0071435)|potassium ion transport (GO:0006813)|synaptic transmission (GO:0007268)	integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)	calcium-activated potassium channel activity (GO:0015269)|outward rectifier potassium channel activity (GO:0015271)|potassium channel activity (GO:0005267)			breast(1)|central_nervous_system(1)|endometrium(1)|kidney(2)|large_intestine(7)|lung(24)|ovary(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(2)	41		Colorectal(252;0.19)		all cancers(201;0.0211)		CCCAGAGGCCCTGGGAAAGCT	0.632																																						ENST00000334549.1																			0				breast(1)|central_nervous_system(1)|endometrium(1)|kidney(2)|large_intestine(7)|lung(24)|ovary(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(2)	41						c.(49-51)Ctg>Ttg		potassium channel, subfamily K, member 18							72.0	66.0	68.0					10																	118957048		2203	4300	6503	SO:0001819	synonymous_variant	338567					integral to membrane|plasma membrane		g.chr10:118957048C>T	AB087138	CCDS7598.1	10q26.11	2012-03-07			ENSG00000186795	ENSG00000186795		"""Potassium channels"", ""Voltage-gated ion channels / Potassium channels, Two-P"""	19439	protein-coding gene	gene with protein product	"""TWIK related spinal cord K+ channel"""	613655				16382106	Standard	NM_181840		Approved	K2p18.1, TRESK-2, TRESK2, TRESK, TRIK	uc010qsr.2	Q7Z418	OTTHUMG00000019120	ENST00000334549.1:c.49C>T	10.37:g.118957048C>T							p.L17L	NM_181840.1	NP_862823.1	Q7Z418	KCNKI_HUMAN		all cancers(201;0.0211)	1	49	+		Colorectal(252;0.19)	17					Q5SQQ8	Silent	SNP	ENST00000334549.1	37	c.49C>T	CCDS7598.1																																																																																				0.632	KCNK18-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000050562.2	NM_181840		4	68	0	0	0	1	0	4	68				
NBPF10	100132406	broad.mit.edu	37	1	145367739	145367739	+	Silent	SNP	A	A	G			TCGA-HT-7608-01A-11D-2086-08	TCGA-HT-7608-10A-01D-2086-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	89a5c656-38cc-4852-ac49-3a7ca6d164a0	1284b1b6-b9f7-4ee6-9ae2-f7da19f9deb6	g.chr1:145367739A>G	ENST00000342960.5	+	83	10370	c.10335A>G	c.(10333-10335)aaA>aaG	p.K3445K	NBPF10_ENST00000369339.3_Intron|NBPF10_ENST00000369338.1_Intron	NM_001039703.4	NP_001034792.4	Q6P3W6	NBPFA_HUMAN	neuroblastoma breakpoint family, member 10	750						cytoplasm (GO:0005737)	poly(A) RNA binding (GO:0044822)	p.K3445K(4)		NS(3)|breast(1)|central_nervous_system(3)|endometrium(12)|kidney(23)|lung(15)|ovary(1)|prostate(7)|skin(6)|urinary_tract(2)	73	all_hematologic(923;0.032)			Colorectal(1306;1.36e-07)|KIRC - Kidney renal clear cell carcinoma(1967;0.00258)		ggaaggggaaaaaaagaaggg	0.413																																						ENST00000342960.5																			4	Substitution - coding silent(4)	p.K3445K(4)	prostate(3)|kidney(1)	NS(3)|breast(1)|central_nervous_system(3)|endometrium(12)|kidney(23)|lung(15)|ovary(1)|prostate(7)|skin(6)|urinary_tract(2)	73						c.(10333-10335)aaA>aaG		neuroblastoma breakpoint family, member 10																																				SO:0001819	synonymous_variant	100132406							g.chr1:145367739A>G	BC021111		1q21.1	2013-01-17			ENSG00000163386	ENSG00000271425		"""neuroblastoma breakpoint family"""	31992	protein-coding gene	gene with protein product		614000				16079250	Standard	NM_001039703		Approved	AG1		Q6P3W6	OTTHUMG00000013757	ENST00000342960.5:c.10335A>G	1.37:g.145367739A>G						NBPF10_ENST00000369338.1_Intron|NBPF10_ENST00000369339.2_Intron	p.K3445K	NM_001039703.4	NP_001034792.4	A6NDV3	A6NDV3_HUMAN		Colorectal(1306;1.36e-07)|KIRC - Kidney renal clear cell carcinoma(1967;0.00258)	83	10370	+	all_hematologic(923;0.032)		3445					Q5RHC0|Q9NWN6	Silent	SNP	ENST00000342960.5	37	c.10335A>G	CCDS53355.1																																																																																				0.413	NBPF10-201	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding		NM_001039703		3	71	0	0	0	1	0	3	71				
ZBTB20	26137	broad.mit.edu	37	3	114058211	114058211	+	Missense_Mutation	SNP	T	T	G			TCGA-HT-7608-01A-11D-2086-08	TCGA-HT-7608-10A-01D-2086-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	89a5c656-38cc-4852-ac49-3a7ca6d164a0	1284b1b6-b9f7-4ee6-9ae2-f7da19f9deb6	g.chr3:114058211T>G	ENST00000474710.1	-	5	2045	c.1867A>C	c.(1867-1869)Aag>Cag	p.K623Q	ZBTB20_ENST00000481632.1_Missense_Mutation_p.K550Q|ZBTB20_ENST00000462705.1_Missense_Mutation_p.K550Q|ZBTB20_ENST00000471418.1_Missense_Mutation_p.K550Q|ZBTB20_ENST00000393785.2_Missense_Mutation_p.K550Q|ZBTB20_ENST00000357258.3_Missense_Mutation_p.K550Q|ZBTB20_ENST00000464560.1_Missense_Mutation_p.K550Q	NM_001164342.1	NP_001157814.1	Q9HC78	ZBT20_HUMAN	zinc finger and BTB domain containing 20	623						nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)|RNA polymerase II core promoter proximal region sequence-specific DNA binding transcription factor activity involved in negative regulation of transcription (GO:0001078)			breast(1)|central_nervous_system(1)|endometrium(10)|kidney(2)|large_intestine(8)|lung(15)|ovary(4)|pancreas(1)|prostate(1)|skin(3)|upper_aerodigestive_tract(2)	48				LUSC - Lung squamous cell carcinoma(41;0.0581)|Lung(219;0.191)		ACCATGTGCTTGATAAGGTAA	0.527																																					NSCLC(69;748 1344 9802 11203 30933)	ENST00000462705.1																			0				breast(1)|central_nervous_system(1)|endometrium(10)|kidney(2)|large_intestine(8)|lung(15)|ovary(4)|pancreas(1)|prostate(1)|skin(3)|upper_aerodigestive_tract(2)	48						c.(1648-1650)Aag>Cag		zinc finger and BTB domain containing 20							155.0	132.0	140.0					3																	114058211		2203	4300	6503	SO:0001583	missense	26137				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding	g.chr3:114058211T>G	AF139460	CCDS2981.1, CCDS54626.1	3q13.2	2013-01-08	2004-07-16	2004-07-16	ENSG00000181722	ENSG00000181722		"""-"", ""Zinc fingers, C2H2-type"", ""BTB/POZ domain containing"""	13503	protein-coding gene	gene with protein product		606025	"""zinc finger protein 288"""	ZNF288		10965110, 11352661	Standard	XM_005247339		Approved	ODA-8S, DKFZp566F123, DPZF	uc003ebi.3	Q9HC78	OTTHUMG00000159366	ENST00000474710.1:c.1867A>C	3.37:g.114058211T>G	ENSP00000419153:p.Lys623Gln					ZBTB20_ENST00000357258.3_Missense_Mutation_p.K550Q|ZBTB20_ENST00000393785.2_Missense_Mutation_p.K550Q|ZBTB20_ENST00000464560.1_Missense_Mutation_p.K550Q|ZBTB20_ENST00000481632.1_Missense_Mutation_p.K550Q|ZBTB20_ENST00000474710.1_Missense_Mutation_p.K623Q|ZBTB20_ENST00000471418.1_Missense_Mutation_p.K550Q	p.K550Q	NM_001164343.1	NP_001157815.1	Q9HC78	ZBT20_HUMAN		LUSC - Lung squamous cell carcinoma(41;0.0581)|Lung(219;0.191)	12	2469	-			623					Q63HP6|Q8N6R5|Q9Y410	Missense_Mutation	SNP	ENST00000474710.1	37	c.1648A>C	CCDS54626.1	.	.	.	.	.	.	.	.	.	.	T	17.25	3.341378	0.60963	.	.	ENSG00000181722	ENST00000462705;ENST00000393785;ENST00000481632;ENST00000471418;ENST00000474710;ENST00000357258;ENST00000464560	T;T;T;T;T;T;T	0.07567	3.18;3.18;3.18;3.18;3.18;3.18;3.18	6.17	6.17	0.99709	Zinc finger, C2H2-like (1);Zinc finger, C2H2 (3);Zinc finger, C2H2-type/integrase, DNA-binding (1);	0.000000	0.85682	D	0.000000	T	0.15349	0.0370	N	0.16201	0.385	0.80722	D	1	D	0.76494	0.999	D	0.72338	0.977	T	0.26258	-1.0108	10	0.33141	T	0.24	.	16.8222	0.85835	0.0:0.0:0.0:1.0	.	623	Q9HC78	ZBT20_HUMAN	Q	550;550;550;550;623;550;550	ENSP00000420324:K550Q;ENSP00000377375:K550Q;ENSP00000418092:K550Q;ENSP00000419902:K550Q;ENSP00000419153:K623Q;ENSP00000349803:K550Q;ENSP00000417307:K550Q	ENSP00000349803:K550Q	K	-	1	0	ZBTB20	115540901	1.000000	0.71417	1.000000	0.80357	0.995000	0.86356	8.040000	0.89188	2.371000	0.80710	0.533000	0.62120	AAG		0.527	ZBTB20-003	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000354951.1	NM_015642		4	96	0	0	0	1	0	4	96				
KRT15	3866	broad.mit.edu	37	17	39673185	39673185	+	Missense_Mutation	SNP	C	C	T	rs138271368	byFrequency	TCGA-HT-7608-01A-11D-2086-08	TCGA-HT-7608-10A-01D-2086-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	89a5c656-38cc-4852-ac49-3a7ca6d164a0	1284b1b6-b9f7-4ee6-9ae2-f7da19f9deb6	g.chr17:39673185C>T	ENST00000254043.3	-	3	4198	c.613G>A	c.(613-615)Gtt>Att	p.V205I	KRT15_ENST00000393976.2_Missense_Mutation_p.V205I|KRT15_ENST00000393981.3_Missense_Mutation_p.V40I|KRT15_ENST00000393974.3_Missense_Mutation_p.V40I	NM_002275.3	NP_002266	P19012	K1C15_HUMAN	keratin 15	205	Coil 1B.|Rod.				epidermis development (GO:0008544)	extracellular vesicular exosome (GO:0070062)|intermediate filament (GO:0005882)|nucleus (GO:0005634)	scaffold protein binding (GO:0097110)|structural constituent of cytoskeleton (GO:0005200)	p.V205I(3)		NS(1)|central_nervous_system(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(3)|lung(3)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	16		Breast(137;0.000286)				TCAGCCTCAACGCCCTGGCGC	0.612													C|||	2	0.000399361	0.0	0.0014	5008	,	,		19121	0.001		0.0	False		,,,				2504	0.0					ENST00000254043.3																			3	Substitution - Missense(3)	p.V205I(3)	prostate(1)|kidney(1)|central_nervous_system(1)	NS(1)|central_nervous_system(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(3)|lung(3)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	16						c.(613-615)Gtt>Att		keratin 15		C	ILE/VAL	1,4405	2.1+/-5.4	0,1,2202	75.0	75.0	75.0		613	2.7	1.0	17	dbSNP_134	75	0,8600		0,0,4300	yes	missense	KRT15	NM_002275.3	29	0,1,6502	TT,TC,CC		0.0,0.0227,0.0077	probably-damaging	205/457	39673185	1,13005	2203	4300	6503	SO:0001583	missense	3866				epidermis development	intermediate filament	protein binding|structural constituent of cytoskeleton	g.chr17:39673185C>T		CCDS11398.1	17q21.2	2013-06-20			ENSG00000171346	ENSG00000171346		"""-"", ""Intermediate filaments type I, keratins (acidic)"""	6421	protein-coding gene	gene with protein product	"""keratin-15, basic"", ""keratin-15, beta"", ""type I cytoskeletal 15"", ""cytokeratin 15"""	148030				16831889	Standard	NM_002275		Approved	K15, CK15, K1CO	uc002hwy.3	P19012	OTTHUMG00000133435	ENST00000254043.3:c.613G>A	17.37:g.39673185C>T	ENSP00000254043:p.Val205Ile					KRT15_ENST00000393974.3_Missense_Mutation_p.V40I|KRT15_ENST00000393976.2_Missense_Mutation_p.V205I|KRT15_ENST00000393981.3_Missense_Mutation_p.V40I	p.V205I	NM_002275.3	NP_002266.2	P19012	K1C15_HUMAN			3	4198	-		Breast(137;0.000286)	205			Coil 1B.|Rod.		B3KQY1|B3KRA2|E0CX14|Q53XV8|Q9BUG4	Missense_Mutation	SNP	ENST00000254043.3	37	c.613G>A	CCDS11398.1	6	0.0027472527472527475	1	0.0020325203252032522	1	0.0027624309392265192	3	0.005244755244755245	1	0.0013192612137203166	C	18.69	3.678865	0.68042	2.27E-4	0.0	ENSG00000171346	ENST00000254043;ENST00000393974;ENST00000393976;ENST00000393981;ENST00000458290	D;D;D;D;D	0.89617	-2.54;-2.54;-2.54;-2.54;-2.54	4.86	2.74	0.32292	Filament (1);	0.000000	0.41823	D	0.000804	D	0.93288	0.7861	M	0.93150	3.385	0.47037	D	0.99929	D;D;D	0.89917	1.0;1.0;1.0	D;D;D	0.91635	0.999;0.997;0.997	D	0.93234	0.6620	10	0.87932	D	0	.	10.0097	0.41979	0.1362:0.7907:0.0:0.0731	.	40;205;205	A8MT21;B3KVF5;P19012	.;.;K1C15_HUMAN	I	205;40;205;40;40	ENSP00000254043:V205I;ENSP00000377544:V40I;ENSP00000377546:V205I;ENSP00000377550:V40I;ENSP00000409282:V40I	ENSP00000254043:V205I	V	-	1	0	KRT15	36926711	1.000000	0.71417	0.999000	0.59377	0.185000	0.23345	4.807000	0.62576	1.254000	0.44035	0.650000	0.86243	GTT		0.612	KRT15-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000257301.1	NM_002275		13	69	0	0	0	1	0	13	69				
TSHR	7253	broad.mit.edu	37	14	81609744	81609744	+	Missense_Mutation	SNP	G	G	A	rs201889708	byFrequency	TCGA-HT-7608-01A-11D-2086-08	TCGA-HT-7608-10A-01D-2086-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	89a5c656-38cc-4852-ac49-3a7ca6d164a0	1284b1b6-b9f7-4ee6-9ae2-f7da19f9deb6	g.chr14:81609744G>A	ENST00000541158.2	+	11	1664	c.1342G>A	c.(1342-1344)Gtc>Atc	p.V448I	TSHR_ENST00000298171.2_Missense_Mutation_p.V448I|RP11-114N19.3_ENST00000557775.1_RNA			P16473	TSHR_HUMAN	thyroid stimulating hormone receptor	448					adenylate cyclase-activating G-protein coupled receptor signaling pathway (GO:0007189)|adult locomotory behavior (GO:0008344)|B cell differentiation (GO:0030183)|cell-cell signaling (GO:0007267)|G-protein coupled receptor signaling pathway (GO:0007186)|G-protein coupled receptor signaling pathway, coupled to cyclic nucleotide second messenger (GO:0007187)|positive regulation of cell proliferation (GO:0008284)|positive regulation of multicellular organism growth (GO:0040018)|regulation of locomotion (GO:0040012)|thyroid-stimulating hormone signaling pathway (GO:0038194)	integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)|receptor complex (GO:0043235)	thyroid-stimulating hormone receptor activity (GO:0004996)			breast(2)|endometrium(2)|kidney(1)|large_intestine(10)|lung(18)|ovary(6)|prostate(3)|skin(2)|stomach(1)|thyroid(291)|upper_aerodigestive_tract(1)	337				BRCA - Breast invasive adenocarcinoma(234;0.0402)	Thyrotropin Alfa(DB00024)	CAAACTGAACGTCCCCCGCTT	0.517			Mis		toxic thyroid adenoma	thyroid  adenoma	Hereditary nonautoimmune hyperthyroidism; subclinical hypothyroidism						G|||	2	0.000399361	0.0008	0.0	5008	,	,		21223	0.0		0.0	False		,,,				2504	0.001					ENST00000541158.2			yes	Dom	yes		14	14q31	7253	Mis	thyroid stimulating hormone receptor	yes	Hereditary nonautoimmune hyperthyroidism; subclinical hypothyroidism	E		thyroid  adenoma	toxic thyroid adenoma		0				breast(2)|endometrium(2)|kidney(1)|large_intestine(10)|lung(18)|ovary(6)|prostate(3)|skin(2)|stomach(1)|thyroid(291)|upper_aerodigestive_tract(1)	337						c.(1342-1344)Gtc>Atc		thyroid stimulating hormone receptor	Thyrotropin Alfa(DB00024)						701.0	559.0	607.0					14																	81609744		2203	4300	6503	SO:0001583	missense	7253				cell-cell signaling|positive regulation of cell proliferation	integral to plasma membrane	protein binding|thyroid-stimulating hormone receptor activity	g.chr14:81609744G>A	AY429111	CCDS9872.1, CCDS32131.1, CCDS55935.1	14q24-q31	2014-09-17			ENSG00000165409	ENSG00000165409		"""GPCR / Class A : Gonadotropin and TSH receptors"""	12373	protein-coding gene	gene with protein product		603372				2558651, 2610690	Standard	NM_001018036		Approved	LGR3	uc001xvd.1	P16473		ENST00000541158.2:c.1342G>A	14.37:g.81609744G>A	ENSP00000441235:p.Val448Ile					TSHR_ENST00000298171.2_Missense_Mutation_p.V448I|RP11-114N19.3_ENST00000557775.1_RNA	p.V448I			P16473	TSHR_HUMAN		BRCA - Breast invasive adenocarcinoma(234;0.0402)	11	1664	+			448					A0PJU7|F5GYU5|G3V2A9|Q16503|Q8TB90|Q96GT6|Q9P1V4|Q9ULA3|Q9UPH3	Missense_Mutation	SNP	ENST00000541158.2	37	c.1342G>A	CCDS9872.1	1	4.578754578754579E-4	1	0.0020325203252032522	0	0.0	0	0.0	0	0.0	G	24.8	4.573917	0.86542	.	.	ENSG00000165409	ENST00000541158;ENST00000412429;ENST00000298171	D;D	0.89415	-2.51;-2.51	5.74	5.74	0.90152	.	0.000000	0.85682	D	0.000000	D	0.94188	0.8135	M	0.69463	2.115	0.80722	D	1	D	0.89917	1.0	D	0.85130	0.997	D	0.94181	0.7432	10	0.87932	D	0	.	19.9226	0.97093	0.0:0.0:1.0:0.0	.	448	F5GYU5	.	I	448;95;448	ENSP00000441235:V448I;ENSP00000298171:V448I	ENSP00000298171:V448I	V	+	1	0	TSHR	80679497	1.000000	0.71417	0.949000	0.38748	0.793000	0.44817	9.869000	0.99810	2.720000	0.93068	0.561000	0.74099	GTC		0.517	TSHR-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000413364.1	NM_000369		12	163	0	0	0	1	0	12	163				
FUBP1	8880	broad.mit.edu	37	1	78422268	78422269	+	Frame_Shift_Ins	INS	-	-	T			TCGA-HT-7608-01A-11D-2086-08	TCGA-HT-7608-10A-01D-2086-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	89a5c656-38cc-4852-ac49-3a7ca6d164a0	1284b1b6-b9f7-4ee6-9ae2-f7da19f9deb6	g.chr1:78422268_78422269insT	ENST00000370768.2	-	17	1774_1775	c.1693_1694insA	c.(1693-1695)actfs	p.T565fs	FUBP1_ENST00000370767.1_Frame_Shift_Ins_p.T565fs|FUBP1_ENST00000436586.2_Frame_Shift_Ins_p.T586fs	NM_003902.3	NP_003893.2	Q96AE4	FUBP1_HUMAN	far upstream element (FUSE) binding protein 1	565					positive regulation of gene expression (GO:0010628)|transcription from RNA polymerase II promoter (GO:0006366)	nucleus (GO:0005634)	poly(A) RNA binding (GO:0044822)|RNA polymerase II distal enhancer sequence-specific DNA binding transcription factor activity involved in positive regulation of transcription (GO:0001205)|sequence-specific DNA binding transcription factor activity (GO:0003700)|single-stranded DNA binding (GO:0003697)			central_nervous_system(7)|haematopoietic_and_lymphoid_tissue(2)|large_intestine(4)|lung(1)|upper_aerodigestive_tract(3)	17						TTGTCCATTAGTTTGAGTTGTA	0.406			"""F, N"""		oligodendroglioma																																	ENST00000370767.1				Rec	yes		1	1p13.1	8880	"""F, N"""	far upstream element (FUSE) binding protein 1			O			oligodendroglioma		0				central_nervous_system(7)|haematopoietic_and_lymphoid_tissue(2)|large_intestine(4)|lung(1)|upper_aerodigestive_tract(3)	17						c.(1693-1695)taafs		far upstream element (FUSE) binding protein 1																																				SO:0001589	frameshift_variant	8880				transcription from RNA polymerase II promoter	nucleus	protein binding|RNA binding|sequence-specific DNA binding transcription factor activity|single-stranded DNA binding	g.chr1:78422268_78422269insT	U05040	CCDS683.1	1p31.1	2008-02-05			ENSG00000162613	ENSG00000162613			4004	protein-coding gene	gene with protein product		603444		FUBP		8125259	Standard	XM_005271309		Approved	FBP	uc001dii.3	Q96AE4	OTTHUMG00000040799	ENST00000370768.2:c.1694dupA	1.37:g.78422271_78422271dupT	ENSP00000359804:p.Thr565fs					FUBP1_ENST00000436586.2_Frame_Shift_Ins_p.*586fs|FUBP1_ENST00000370768.2_Frame_Shift_Ins_p.*565fs	p.*565fs			Q96AE4	FUBP1_HUMAN			17	1780_1781	-			565					Q12828	Frame_Shift_Ins	INS	ENST00000370768.2	37	c.1693_1694insA	CCDS683.1																																																																																				0.406	FUBP1-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000098030.3	NM_003902		54	41						54	41	---	---	---	---
LINC01250	101927554	broad.mit.edu	37	2	2910678	2910679	+	lincRNA	INS	-	-	C	rs140675846|rs369109762		TCGA-HT-7608-01A-11D-2086-08	TCGA-HT-7608-10A-01D-2086-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	89a5c656-38cc-4852-ac49-3a7ca6d164a0	1284b1b6-b9f7-4ee6-9ae2-f7da19f9deb6	g.chr2:2910678_2910679insC	ENST00000457478.1	-	0	594																											caccccctcttcccagcccaca	0.703																																						ENST00000457478.1																			0																																																			0							g.chr2:2910678_2910679insC																													2.37:g.2910681_2910681dupC														0	594	-									RNA	INS	ENST00000457478.1	37																																																																																						0.703	AC019118.2-001	KNOWN	basic|exp_conf	lincRNA	lincRNA	OTTHUMT00000322597.1			4	6						4	6	---	---	---	---
LINC01250	101927554	broad.mit.edu	37	2	3061511	3061513	+	lincRNA	DEL	TGG	TGG	-	rs374971045		TCGA-HT-7608-01A-11D-2086-08	TCGA-HT-7608-10A-01D-2086-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	89a5c656-38cc-4852-ac49-3a7ca6d164a0	1284b1b6-b9f7-4ee6-9ae2-f7da19f9deb6	g.chr2:3061511_3061513delTGG	ENST00000457478.1	-	0	438																											gcaaagataatggtggtggtggt	0.448																																						ENST00000457478.1																			0																																																			0							g.chr2:3061511_3061513delTGG																													2.37:g.3061520_3061522delTGG														0	438	-									RNA	DEL	ENST00000457478.1	37																																																																																						0.448	AC019118.2-001	KNOWN	basic|exp_conf	lincRNA	lincRNA	OTTHUMT00000322597.1			2	4						2	4	---	---	---	---
BIRC6	57448	broad.mit.edu	37	2	32706407	32706407	+	Frame_Shift_Del	DEL	T	T	-			TCGA-HT-7608-01A-11D-2086-08	TCGA-HT-7608-10A-01D-2086-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	89a5c656-38cc-4852-ac49-3a7ca6d164a0	1284b1b6-b9f7-4ee6-9ae2-f7da19f9deb6	g.chr2:32706407delT	ENST00000421745.2	+	38	7562	c.7428delT	c.(7426-7428)tctfs	p.S2476fs		NM_016252.3	NP_057336	Q9NR09	BIRC6_HUMAN	baculoviral IAP repeat containing 6	2476					apoptotic process (GO:0006915)|labyrinthine layer development (GO:0060711)|mitotic nuclear division (GO:0007067)|negative regulation of apoptotic process (GO:0043066)|negative regulation of endopeptidase activity (GO:0010951)|negative regulation of extrinsic apoptotic signaling pathway (GO:2001237)|positive regulation of cell proliferation (GO:0008284)|protein phosphorylation (GO:0006468)|protein ubiquitination (GO:0016567)|regulation of cell proliferation (GO:0042127)|regulation of cytokinesis (GO:0032465)|spongiotrophoblast layer development (GO:0060712)	endosome (GO:0005768)|membrane (GO:0016020)|microtubule organizing center (GO:0005815)|midbody (GO:0030496)|spindle pole (GO:0000922)|trans-Golgi network (GO:0005802)	acid-amino acid ligase activity (GO:0016881)|cysteine-type endopeptidase inhibitor activity (GO:0004869)|ubiquitin-protein transferase activity (GO:0004842)			NS(4)|breast(8)|central_nervous_system(3)|endometrium(21)|haematopoietic_and_lymphoid_tissue(1)|kidney(15)|large_intestine(31)|lung(65)|ovary(7)|pancreas(1)|prostate(5)|skin(5)|stomach(1)|urinary_tract(5)	172	Acute lymphoblastic leukemia(172;0.155)					CTCTGTCCTCTTTGGAAAAAG	0.333																																					Pancreas(94;175 1509 16028 18060 45422)	ENST00000421745.2																			0				NS(4)|breast(8)|central_nervous_system(3)|endometrium(21)|haematopoietic_and_lymphoid_tissue(1)|kidney(15)|large_intestine(31)|lung(65)|ovary(7)|pancreas(1)|prostate(5)|skin(5)|stomach(1)|urinary_tract(5)	172						c.(7426-7428)tcfs		baculoviral IAP repeat containing 6							96.0	106.0	103.0					2																	32706407		2203	4300	6503	SO:0001589	frameshift_variant	57448				anti-apoptosis|apoptosis	intracellular	acid-amino acid ligase activity|cysteine-type endopeptidase inhibitor activity|protein binding	g.chr2:32706407delT	AF265555	CCDS33175.2	2p22.3	2011-01-25	2011-01-25		ENSG00000115760	ENSG00000115760		"""Baculoviral IAP repeat containing"", ""Ubiquitin-conjugating enzymes E2"""	13516	protein-coding gene	gene with protein product	"""apollon"""	605638	"""baculoviral IAP repeat-containing 6"""			10544019	Standard	NM_016252		Approved	BRUCE	uc010ezu.3	Q9NR09	OTTHUMG00000150528	ENST00000421745.2:c.7428delT	2.37:g.32706407delT	ENSP00000393596:p.Ser2476fs						p.S2476fs	NM_016252.3	NP_057336.3	Q9NR09	BIRC6_HUMAN			38	7562	+	Acute lymphoblastic leukemia(172;0.155)		2476					Q9ULD1	Frame_Shift_Del	DEL	ENST00000421745.2	37	c.7428delT	CCDS33175.2																																																																																				0.333	BIRC6-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000318769.3	NM_016252		10	105						10	105	---	---	---	---
HLA-V	352962	broad.mit.edu	37	6	29760353	29760373	+	RNA	DEL	GCGGGCGCCGTGGATGGAGCA	GCGGGCGCCGTGGATGGAGCA	-	rs60681449|rs2905755|rs140982245	byFrequency	TCGA-HT-7608-01A-11D-2086-08	TCGA-HT-7608-10A-01D-2086-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	89a5c656-38cc-4852-ac49-3a7ca6d164a0	1284b1b6-b9f7-4ee6-9ae2-f7da19f9deb6	g.chr6:29760353_29760373delGCGGGCGCCGTGGATGGAGCA	ENST00000457107.1	+	0	223_243									major histocompatibility complex, class I, V (pseudogene)																		GGATGGAGCCGCGGGCGCCGTGGATGGAGCAGGAGGGGCCG	0.674																																						ENST00000457107.1																			0																																																			0							g.chr6:29760353_29760373delGCGGGCGCCGTGGATGGAGCA	M96332		6p21.3	2012-10-05	2007-12-12	2007-12-12	ENSG00000181126	ENSG00000181126		"""Histocompatibility complex"""	23482	pseudogene	pseudogene			"""HLA-75 pseudogene"""	HLA-75			Standard	NG_002729		Approved	dJ377H14.4			OTTHUMG00000031277		6.37:g.29760353_29760373delGCGGGCGCCGTGGATGGAGCA														0	223_243	+									RNA	DEL	ENST00000457107.1	37																																																																																						0.674	HLA-V-003	KNOWN	basic	processed_transcript	pseudogene	OTTHUMT00000105231.1	NG_002729		5	3						5	3	---	---	---	---
PRIM1	5557	broad.mit.edu	37	12	57136804	57136804	+	Frame_Shift_Del	DEL	T	T	-			TCGA-HT-7608-01A-11D-2086-08	TCGA-HT-7608-10A-01D-2086-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	89a5c656-38cc-4852-ac49-3a7ca6d164a0	1284b1b6-b9f7-4ee6-9ae2-f7da19f9deb6	g.chr12:57136804delT	ENST00000338193.6	-	7	751	c.715delA	c.(715-717)agcfs	p.S239fs		NM_000946.2	NP_000937.1	P49642	PRI1_HUMAN	primase, DNA, polypeptide 1 (49kDa)	239					DNA replication initiation (GO:0006270)|DNA replication, synthesis of RNA primer (GO:0006269)|DNA strand elongation involved in DNA replication (GO:0006271)|G1/S transition of mitotic cell cycle (GO:0000082)|mitotic cell cycle (GO:0000278)|telomere maintenance (GO:0000723)|telomere maintenance via recombination (GO:0000722)|telomere maintenance via semi-conservative replication (GO:0032201)	membrane (GO:0016020)|nucleoplasm (GO:0005654)|primosome complex (GO:1990077)	DNA primase activity (GO:0003896)|metal ion binding (GO:0046872)			kidney(1)|lung(6)|prostate(1)	8						TTATCCCAGCTTTCTTTATTT	0.299																																						ENST00000338193.6																			0				kidney(1)|lung(6)|prostate(1)	8						c.(715-717)gcfs		primase, DNA, polypeptide 1 (49kDa)							58.0	49.0	52.0					12																	57136804		1797	4046	5843	SO:0001589	frameshift_variant	5557				DNA replication, synthesis of RNA primer|DNA strand elongation involved in DNA replication|DNA-dependent DNA replication initiation|G1/S transition of mitotic cell cycle|M/G1 transition of mitotic cell cycle|S phase of mitotic cell cycle|telomere maintenance via recombination|telomere maintenance via semi-conservative replication	alpha DNA polymerase:primase complex|nucleoplasm	DNA primase activity|metal ion binding	g.chr12:57136804delT	BC005266	CCDS44926.1	12q13.3	2007-06-19	2007-06-19			ENSG00000198056			9369	protein-coding gene	gene with protein product		176635				8530050	Standard	NM_000946		Approved		uc001smd.3	P49642	OTTHUMG00000170034	ENST00000338193.6:c.715delA	12.37:g.57136804delT	ENSP00000350491:p.Ser239fs						p.S239fs	NM_000946.2	NP_000937.1	P49642	PRI1_HUMAN			7	751	-			239						Frame_Shift_Del	DEL	ENST00000338193.6	37	c.715delA	CCDS44926.1																																																																																				0.299	PRIM1-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000406956.1	NM_000946		2	4						2	4	---	---	---	---
BTBD1	53339	broad.mit.edu	37	15	83687454	83687457	+	Splice_Site	DEL	CTTA	CTTA	-			TCGA-HT-7608-01A-11D-2086-08	TCGA-HT-7608-10A-01D-2086-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	89a5c656-38cc-4852-ac49-3a7ca6d164a0	1284b1b6-b9f7-4ee6-9ae2-f7da19f9deb6	g.chr15:83687454_83687457delCTTA	ENST00000261721.4	-	7	1493		c.e7+1		RP11-382A20.7_ENST00000570202.1_RNA|RP11-382A20.5_ENST00000566841.1_RNA|BTBD1_ENST00000379403.2_Splice_Site	NM_001011885.1|NM_025238.3	NP_001011885.1|NP_079514.1	Q9H0C5	BTBD1_HUMAN	BTB (POZ) domain containing 1						protein ubiquitination (GO:0016567)|regulation of protein binding (GO:0043393)	cytoplasmic mRNA processing body (GO:0000932)|protein complex (GO:0043234)				central_nervous_system(1)|endometrium(1)|large_intestine(4)|lung(2)|ovary(1)|prostate(1)	10				all cancers(203;0.000186)		GTGCATGACTCTTACTTTGAGTGT	0.441																																						ENST00000261721.4																			0				central_nervous_system(1)|endometrium(1)|large_intestine(4)|lung(2)|ovary(1)|prostate(1)	10						c.e7+1		BTB (POZ) domain containing 1																																				SO:0001630	splice_region_variant	53339					cytoplasmic mRNA processing body|protein complex	protein binding	g.chr15:83687454_83687457delCTTA	AF355402	CCDS10322.1, CCDS32313.1	15q24	2013-01-08			ENSG00000064726	ENSG00000064726		"""BTB/POZ domain containing"""	1120	protein-coding gene	gene with protein product		608530					Standard	XM_006720573		Approved		uc002bjn.3	Q9H0C5	OTTHUMG00000147364	ENST00000261721.4:c.1290+1TAAG>-	15.37:g.83687454_83687457delCTTA						RP11-382A20.7_ENST00000570202.1_RNA|BTBD1_ENST00000379403.2_Splice_Site|RP11-382A20.5_ENST00000566841.1_RNA		NM_001011885.1|NM_025238.3	NP_001011885.1|NP_079514.1	Q9H0C5	BTBD1_HUMAN		all cancers(203;0.000186)	7	1493	-								A6NMI8|Q9BX71|Q9NWN4	Splice_Site	DEL	ENST00000261721.4	37		CCDS10322.1																																																																																				0.441	BTBD1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000304008.1		Intron	22	55						22	55	---	---	---	---
OR7E24	26648	broad.mit.edu	37	19	9361740	9361741	+	Frame_Shift_Ins	INS	-	-	T	rs374077378|rs201985790		TCGA-HT-7608-01A-11D-2086-08	TCGA-HT-7608-10A-01D-2086-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	89a5c656-38cc-4852-ac49-3a7ca6d164a0	1284b1b6-b9f7-4ee6-9ae2-f7da19f9deb6	g.chr19:9361740_9361741insT	ENST00000456448.1	+	1	135_136	c.21_22insT	c.(22-24)tttfs	p.F8fs		NM_001079935.1	NP_001073404.1	Q6IFN5	O7E24_HUMAN	olfactory receptor, family 7, subfamily E, member 24	8						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)			endometrium(1)|large_intestine(3)|lung(8)|ovary(1)|prostate(1)|skin(2)	16						TTCCAATTCTCTTTTTTTTTTT	0.386																																						ENST00000456448.1																			0				endometrium(1)|large_intestine(3)|lung(8)|ovary(1)|prostate(1)|skin(2)	16						c.(19-24)ctttttfs		olfactory receptor, family 7, subfamily E, member 24																																				SO:0001589	frameshift_variant	26648				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	g.chr19:9361740_9361741insT	Y10529	CCDS45955.1	19p13.2	2012-08-09	2004-03-04	2004-03-05		ENSG00000237521		"""GPCR / Class A : Olfactory receptors"""	8396	protein-coding gene	gene with protein product			"""olfactory receptor, family 7, subfamily E, member 24 pseudogene"""	OR7E24P		9268701	Standard	NM_001079935		Approved	OR19-8, HSHT2, OR7E24Q	uc002mlb.1	Q6IFN5		ENST00000456448.1:c.32dupT	19.37:g.9361751_9361751dupT	ENSP00000387523:p.Phe8fs						p.LF7fs	NM_001079935.1	NP_001073404.1	Q6IFN5	O7E24_HUMAN			1	135_136	+			7					B9EJD9|Q9UPJ1	Frame_Shift_Ins	INS	ENST00000456448.1	37	c.21_22insT	CCDS45955.1																																																																																				0.386	OR7E24-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000449006.1			2	4						2	4	---	---	---	---
LOC100289333	100289333	broad.mit.edu	37	19	12305944	12305944	+	lincRNA	DEL	G	G	-	rs138832417|rs536509614	byFrequency	TCGA-HT-7608-01A-11D-2086-08	TCGA-HT-7608-10A-01D-2086-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	89a5c656-38cc-4852-ac49-3a7ca6d164a0	1284b1b6-b9f7-4ee6-9ae2-f7da19f9deb6	g.chr19:12305944delG	ENST00000426044.1	+	0	113																											CCAGACACCTGGAAGCCGGAA	0.637													GG|GG|G|deletion	380	0.0758786	0.2791	0.0159	5008	,	,		16869	0.0		0.0	False		,,,				2504	0.0					ENST00000426044.1																			0																																																			0							g.chr19:12305944delG																													19.37:g.12305944delG														0	113	+									RNA	DEL	ENST00000426044.1	37																																																																																						0.637	CTD-2666L21.1-001	KNOWN	basic	lincRNA	lincRNA	OTTHUMT00000344136.1			6	5						6	5	---	---	---	---
CIC	23152	broad.mit.edu	37	19	42792020	42792021	+	Frame_Shift_Del	DEL	AG	AG	-			TCGA-HT-7608-01A-11D-2086-08	TCGA-HT-7608-10A-01D-2086-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	89a5c656-38cc-4852-ac49-3a7ca6d164a0	1284b1b6-b9f7-4ee6-9ae2-f7da19f9deb6	g.chr19:42792020_42792021delAG	ENST00000575354.2	+	6	864_865	c.824_825delAG	c.(823-825)aagfs	p.K276fs	CIC_ENST00000160740.3_Frame_Shift_Del_p.K276fs|CIC_ENST00000572681.2_Frame_Shift_Del_p.K1185fs	NM_015125.3	NP_055940.3	Q96RK0	CIC_HUMAN	capicua transcriptional repressor	276					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)			autonomic_ganglia(1)|breast(5)|central_nervous_system(32)|endometrium(10)|kidney(2)|large_intestine(7)|lung(9)|ovary(7)|prostate(3)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(2)	82		Prostate(69;0.00682)				AAGGACCGAAAGAAGTCCAGCT	0.649			"""Mis, F, S"""		oligodendroglioma																																	ENST00000572681.2				Rec	yes		19	19q13.2	23152	"""Mis, F, S"""	capicua homolog			O			oligodendroglioma		0				autonomic_ganglia(1)|breast(5)|central_nervous_system(32)|endometrium(10)|kidney(2)|large_intestine(7)|lung(9)|ovary(7)|prostate(3)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(2)	82						c.(3550-3552)afs		capicua transcriptional repressor																																				SO:0001589	frameshift_variant	23152				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|protein binding	g.chr19:42792020_42792021delAG	AB002304	CCDS12601.1	19q13.2	2013-03-15	2013-03-15		ENSG00000079432	ENSG00000079432			14214	protein-coding gene	gene with protein product		612082	"""capicua (Drosophila) homolog"", ""capicua homolog (Drosophila)"""			12393275, 15981098	Standard	NM_015125		Approved	KIAA0306	uc002otf.1	Q96RK0		ENST00000575354.2:c.824_825delAG	19.37:g.42792020_42792021delAG	ENSP00000458663:p.Lys276fs					CIC_ENST00000575354.2_Frame_Shift_Del_p.K276fs|CIC_ENST00000160740.3_Frame_Shift_Del_p.K276fs	p.K1185fs			Q96RK0	CIC_HUMAN			7	3619_3620	+		Prostate(69;0.00682)	276			Pro-rich.		Q7LGI1|Q9UEG5|Q9Y6T1	Frame_Shift_Del	DEL	ENST00000575354.2	37	c.3551_3552delAG	CCDS12601.1																																																																																				0.649	CIC-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000438532.2			5	5						5	5	---	---	---	---
